| 8568376 | CV39444 | deletion | SLCO1B3, 7.2-KB DEL | Rotor syndrome [RCV000023444] | pathogenic | | | | Human | 1 | name |
| 11625885 | CV331441 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*8T>C | Rotor syndrome [RCV000404371] | uncertain significance | 12 | 20916255 | 20916255 | Human | 1 | name |
| 11600537 | CV316532 | single nucleotide variant | NM_019844.4(SLCO1B3):c.-90C>T | Rotor syndrome [RCV000274757]|not provided [RCV004706931] | benign | 12 | 20813614 | 20813614 | Human | 1 | name |
| 11660427 | CV316528 | deletion | NM_019844.4(SLCO1B3):c.-128del | Rotor syndrome [RCV000367033] | likely benign | 12 | 20813574 | 20813574 | Human | 1 | name |
| 11646614 | CV316566 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*399A>G | Rotor syndrome [RCV000272003] | uncertain significance | 12 | 20916646 | 20916646 | Human | 1 | name |
| 11610769 | CV316567 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*548A>T | Rotor syndrome [RCV000386209]|not provided [RCV004708251] | benign|likely benign | 12 | 20916795 | 20916795 | Human | 1 | name |
| 11600931 | CV316577 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*622G>A | Rotor syndrome [RCV000278301] | uncertain significance | 12 | 20916869 | 20916869 | Human | 1 | name |
| 11609293 | CV324079 | duplication | NM_019844.4(SLCO1B3):c.*355dup | Rotor syndrome [RCV000366600] | benign | 12 | 20916594 | 20916595 | Human | 1 | name |
| 11609781 | CV324080 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*610A>G | Rotor syndrome [RCV000372822] | uncertain significance | 12 | 20916857 | 20916857 | Human | 1 | name |
| 11646479 | CV330045 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*307T>C | Rotor syndrome [RCV000270910] | uncertain significance | 12 | 20916554 | 20916554 | Human | 1 | name |
| 11617709 | CV330050 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*339G>C | Rotor syndrome [RCV000307287] | uncertain significance | 12 | 20916586 | 20916586 | Human | 1 | name |
| 11619978 | CV330051 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*540G>A | Rotor syndrome [RCV000331670] | uncertain significance | 12 | 20916787 | 20916787 | Human | 1 | name |
| 11647528 | CV330055 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*560T>C | Rotor syndrome [RCV000277071] | uncertain significance | 12 | 20916807 | 20916807 | Human | 1 | name |
| 11620499 | CV330059 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*627G>A | Rotor syndrome [RCV000337788] | benign|likely benign | 12 | 20916874 | 20916874 | Human | 1 | name |
| 11622674 | CV331377 | single nucleotide variant | NM_019844.3(SLCO1B3):c.-241G>A | Rotor syndrome [RCV000363014]|not provided [RCV004706929] | benign|likely benign | 12 | 20810704 | 20810704 | Human | 1 | name |
| 11617571 | CV331442 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*136C>T | Rotor syndrome [RCV000305649]|not provided [RCV004693097] | uncertain significance | 12 | 20916383 | 20916383 | Human | 1 | name |
| 11659708 | CV331452 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*219G>A | Rotor syndrome [RCV000360418] | uncertain significance | 12 | 20916466 | 20916466 | Human | 1 | name |
| 11620010 | CV331454 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*562G>T | Rotor syndrome [RCV000332059] | uncertain significance | 12 | 20916809 | 20916809 | Human | 1 | name |
| 598127434 | CV3882662 | single nucleotide variant | NM_019844.4(SLCO1B3):c.84+4G>T | Rotor syndrome [RCV005234192] | uncertain significance | 12 | 20815826 | 20815826 | Human | 1 | name |
| 28911708 | CV869593 | single nucleotide variant | NM_019844.4(SLCO1B3):c.-147A>T | Rotor syndrome [RCV001111042] | uncertain significance | 12 | 20813557 | 20813557 | Human | 1 | name |
| 28911709 | CV869594 | single nucleotide variant | NM_019844.4(SLCO1B3):c.-145G>C | Rotor syndrome [RCV001111043] | uncertain significance | 12 | 20813559 | 20813559 | Human | 1 | name |
| 28872511 | CV869615 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*362A>C | Rotor syndrome [RCV001114578] | uncertain significance | 12 | 20916609 | 20916609 | Human | 1 | name |
| 28872514 | CV869616 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*437A>G | Rotor syndrome [RCV001114579] | uncertain significance | 12 | 20916684 | 20916684 | Human | 1 | name |
| 28872518 | CV869617 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*509T>C | Rotor syndrome [RCV001114580] | uncertain significance | 12 | 20916756 | 20916756 | Human | 1 | name |
| 28910175 | CV869618 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*641C>T | Rotor syndrome [RCV001108956] | uncertain significance | 12 | 20916888 | 20916888 | Human | 1 | name |
| 28911881 | CV869619 | single nucleotide variant | NM_019844.4(SLCO1B3):c.*642G>A | Rotor syndrome [RCV001111308] | benign | 12 | 20916889 | 20916889 | Human | 1 | name |
| 150486664 | CV1262611 | single nucleotide variant | NM_019844.4(SLCO1B3):c.84+72C>T | not provided [RCV001687008] | benign | 12 | 20815894 | 20815894 | Human | | name |
| 151349927 | CV1321205 | single nucleotide variant | NM_019844.4(SLCO1B3):c.481+3A>G | Rotor syndrome [RCV001803618] | likely benign | 12 | 20861141 | 20861141 | Human | 1 | name |
| 156448556 | CV2401962 | single nucleotide variant | NM_019844.4(SLCO1B3):c.481+7A>G | Rotor syndrome [RCV003120121] | likely benign | 12 | 20861145 | 20861145 | Human | 1 | name |
| 11547872 | CV254468 | single nucleotide variant | NM_019844.4(SLCO1B3):c.360-3C>T | Rotor syndrome [RCV000316878]|not provided [RCV001610711]|not specified [RCV000248330] | benign | 12 | 20861014 | 20861014 | Human | 1 | name |
| 401932316 | CV2797307 | single nucleotide variant | NM_019844.4(SLCO1B3):c.482-6C>A | SLCO1B3-related disorder [RCV003408659] | uncertain significance | 12 | 20862406 | 20862406 | Human | | name , trait , alternate_id |
| 405271409 | CV3209426 | single nucleotide variant | NM_019844.4(SLCO1B3):c.226+5C>T | SLCO1B3-related disorder [RCV003949751] | likely benign | 12 | 20855174 | 20855174 | Human | | name , trait , alternate_id |
| 11662975 | CV330011 | single nucleotide variant | NM_019844.4(SLCO1B3):c.628+4A>T | Rotor syndrome [RCV000391220] | uncertain significance | 12 | 20862562 | 20862562 | Human | 1 | name |
| 408378299 | CV3511884 | duplication | NM_019844.4(SLCO1B3):c.227-5dup | SLCO1B3-related disorder [RCV004752208] | likely benign | 12 | 20858426 | 20858427 | Human | | name , trait , alternate_id |
| 596920667 | CV3534118 | single nucleotide variant | NM_019844.4(SLCO1B3):c.481+1G>C | Rotor syndrome [RCV004783336] | likely pathogenic | 12 | 20861139 | 20861139 | Human | 1 | name |
| 13436809 | CV433930 | deletion | NM_019844.4(SLCO1B3):c.-7_-4del | Rotor syndrome [RCV000507804]|not provided [RCV001618720] | benign | 12 | 20815732 | 20815735 | Human | 1 | name |
| 14693491 | CV620843 | single nucleotide variant | NM_019844.4(SLCO1B3):c.971-2A>G | Rotor syndrome [RCV000779095]|SLCO1B3-related disorder [RCV004751699] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 12 | 20877770 | 20877770 | Human | 1 | name , trait , alternate_id |
| 21405704 | CV799670 | single nucleotide variant | NM_019844.4(SLCO1B3):c.728-4C>G | SLCO1B3-related disorder [RCV003983817]|not specified [RCV001001023] | likely benign|uncertain significance | 12 | 20875231 | 20875231 | Human | 1 | name , trait , alternate_id |
| 28911756 | CV872218 | single nucleotide variant | NM_019844.4(SLCO1B3):c.727+7A>G | Rotor syndrome [RCV001111118] | likely benign | 12 | 20862861 | 20862861 | Human | 1 | name |
| 126736233 | CV1021012 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1135+1G>A | Rotor syndrome [RCV001802593] | pathogenic|likely pathogenic | 12 | 20877937 | 20877937 | Human | 1 | name |
| 150461542 | CV1215817 | single nucleotide variant | NM_019844.4(SLCO1B3):c.728-76T>C | not provided [RCV001613520] | benign | 12 | 20875159 | 20875159 | Human | | name |
| 150513207 | CV1228933 | single nucleotide variant | NM_019844.4(SLCO1B3):c.227-77A>G | not provided [RCV001637775] | benign | 12 | 20858362 | 20858362 | Human | | name |
| 150500511 | CV1234654 | single nucleotide variant | NM_019844.4(SLCO1B3):c.481+91T>A | not provided [RCV001656621] | benign | 12 | 20861229 | 20861229 | Human | | name |
| 150464391 | CV1252673 | single nucleotide variant | NM_019844.4(SLCO1B3):c.481+67C>G | not provided [RCV001669997] | benign | 12 | 20861205 | 20861205 | Human | | name |
| 150463703 | CV1276264 | single nucleotide variant | NM_019844.4(SLCO1B3):c.359+76G>A | not provided [RCV001710209] | benign | 12 | 20858647 | 20858647 | Human | | name |
| 150454674 | CV1277046 | single nucleotide variant | NM_019844.4(SLCO1B3):c.84+124A>T | not provided [RCV001708837] | benign | 12 | 20815946 | 20815946 | Human | | name |
| 150454780 | CV1277064 | single nucleotide variant | NM_019844.4(SLCO1B3):c.227-63T>C | not provided [RCV001708856] | benign | 12 | 20858376 | 20858376 | Human | | name |
| 150442198 | CV1287685 | single nucleotide variant | NM_019844.4(SLCO1B3):c.629-80A>G | not provided [RCV001725405] | benign | 12 | 20862676 | 20862676 | Human | | name |
| 11604995 | CV316522 | single nucleotide variant | NM_019844.4(SLCO1B3):c.-180-7T>G | Rotor syndrome [RCV000314644]|not provided [RCV004706930] | benign|likely benign | 12 | 20813517 | 20813517 | Human | 1 | name |
| 11598963 | CV316536 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1135+8A>G | Rotor syndrome [RCV000261867]|SLCO1B3-related disorder [RCV003977897] | likely benign|uncertain significance | 12 | 20877944 | 20877944 | Human | 1 | name , trait , alternate_id |
| 405272830 | CV3197533 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1136-4C>T | SLCO1B3-related disorder [RCV003901502] | likely benign | 12 | 20879432 | 20879432 | Human | | name , trait , alternate_id |
| 405275135 | CV3204604 | single nucleotide variant | NM_019844.4(SLCO1B3):c.482-10G>T | SLCO1B3-related disorder [RCV003952016] | likely benign | 12 | 20862402 | 20862402 | Human | | name , trait , alternate_id |
| 405274645 | CV3209049 | deletion | NM_019844.4(SLCO1B3):c.1498-9del | SLCO1B3-related disorder [RCV003951806] | likely benign | 12 | 20883409 | 20883409 | Human | | name , trait , alternate_id |
| 405267686 | CV3219456 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1866-9T>C | SLCO1B3-related disorder [RCV003969678] | likely benign | 12 | 20915995 | 20915995 | Human | | name , trait , alternate_id |
| 11612065 | CV324067 | single nucleotide variant | NM_019844.4(SLCO1B3):c.727+10A>G | Rotor syndrome [RCV000403558] | uncertain significance | 12 | 20862864 | 20862864 | Human | 1 | name |
| 11621806 | CV330043 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1747+5G>A | Rotor syndrome [RCV000352683] | uncertain significance | 12 | 20898505 | 20898505 | Human | 1 | name |
| 408378750 | CV3515104 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1136-6T>A | SLCO1B3-related disorder [RCV004752375] | likely benign | 12 | 20879430 | 20879430 | Human | | name , trait , alternate_id |
| 8568377 | CV39445 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1747+1G>A | Rotor syndrome [RCV000023445]|SLCO1B3-related disorder [RCV003415733] | pathogenic|uncertain significance | 12 | 20898501 | 20898501 | Human | 1 | name , trait , alternate_id |
| 28911807 | CV872220 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1747+3A>G | Rotor syndrome [RCV001111212] | uncertain significance | 12 | 20898503 | 20898503 | Human | 1 | name |
| 150511685 | CV1212809 | single nucleotide variant | NM_019844.4(SLCO1B3):c.227-138T>C | not provided [RCV001598041] | benign | 12 | 20858301 | 20858301 | Human | | name |
| 150449212 | CV1215078 | single nucleotide variant | NM_019844.4(SLCO1B3):c.971-116C>T | not provided [RCV001611668] | benign | 12 | 20877656 | 20877656 | Human | | name |
| 150467211 | CV1218319 | single nucleotide variant | NM_019844.4(SLCO1B3):c.360-310A>C | not provided [RCV001614445] | benign | 12 | 20860707 | 20860707 | Human | | name |
| 150479680 | CV1219282 | single nucleotide variant | NM_019844.4(SLCO1B3):c.360-320C>T | not provided [RCV001616624] | benign | 12 | 20860697 | 20860697 | Human | | name |
| 150497067 | CV1219345 | single nucleotide variant | NM_019844.4(SLCO1B3):c.971-252A>G | not provided [RCV001620014] | benign | 12 | 20877520 | 20877520 | Human | | name |
| 150479934 | CV1221870 | single nucleotide variant | NM_019844.4(SLCO1B3):c.482-207G>T | not provided [RCV001616666] | benign | 12 | 20862205 | 20862205 | Human | | name |
| 150504785 | CV1222734 | single nucleotide variant | NM_019844.4(SLCO1B3):c.359+308C>T | not provided [RCV001621668] | benign | 12 | 20858879 | 20858879 | Human | | name |
| 150506098 | CV1226262 | single nucleotide variant | NM_019844.4(SLCO1B3):c.481+197G>A | not provided [RCV001635630] | benign | 12 | 20861335 | 20861335 | Human | | name |
| 150473633 | CV1234313 | single nucleotide variant | NM_019844.4(SLCO1B3):c.971-124G>A | not provided [RCV001651632] | benign | 12 | 20877648 | 20877648 | Human | | name |
| 150494029 | CV1238786 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1747+55C>T | not provided [RCV001655330] | benign | 12 | 20898555 | 20898555 | Human | | name |
| 150481121 | CV1239719 | single nucleotide variant | NM_019844.4(SLCO1B3):c.360-273A>G | not provided [RCV001652882] | benign | 12 | 20860744 | 20860744 | Human | | name |
| 150465149 | CV1240191 | single nucleotide variant | NM_019844.4(SLCO1B3):c.482-271G>T | not provided [RCV001649952] | benign | 12 | 20862141 | 20862141 | Human | | name |
| 150505885 | CV1242078 | single nucleotide variant | NM_019844.4(SLCO1B3):c.482-103C>G | not provided [RCV001658429] | benign | 12 | 20862309 | 20862309 | Human | | name |
| 150510993 | CV1242570 | single nucleotide variant | NM_019844.4(SLCO1B3):c.226+253T>G | not provided [RCV001660922] | benign | 12 | 20855422 | 20855422 | Human | | name |
| 150445066 | CV1261138 | single nucleotide variant | NM_019844.4(SLCO1B3):c.481+271C>T | not provided [RCV001679812] | benign | 12 | 20861409 | 20861409 | Human | | name |
| 150471824 | CV1270153 | single nucleotide variant | NM_019844.4(SLCO1B3):c.482-300C>G | not provided [RCV001695441] | benign | 12 | 20862112 | 20862112 | Human | | name |
| 150452567 | CV1276743 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1498-82T>G | not provided [RCV001708533] | benign | 12 | 20883336 | 20883336 | Human | | name |
| 150467970 | CV1277663 | single nucleotide variant | NM_019844.4(SLCO1B3):c.482-141C>A | not provided [RCV001710958] | benign | 12 | 20862271 | 20862271 | Human | | name |
| 11612257 | CV316517 | single nucleotide variant | NM_019844.4(SLCO1B3):c.-181+15G>C | Rotor syndrome [RCV000405991] | uncertain significance | 12 | 20810779 | 20810779 | Human | 1 | name |
| 11663230 | CV331411 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1748-12C>T | Rotor syndrome [RCV000393919] | uncertain significance | 12 | 20901338 | 20901338 | Human | 1 | name |
| 11625013 | CV331433 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1865+11G>A | Rotor syndrome [RCV000393960] | uncertain significance | 12 | 20901478 | 20901478 | Human | 1 | name |
| 408378221 | CV3511483 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1865+10C>T | SLCO1B3-related disorder [RCV004752179] | likely benign | 12 | 20901477 | 20901477 | Human | | name , trait , alternate_id |
| 28911385 | CV872219 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1332-15A>G | Rotor syndrome [RCV001110460] | uncertain significance | 12 | 20880840 | 20880840 | Human | 1 | name |
| 41404929 | CV981776 | deletion | NM_019844.4(SLCO1B3):c.-28_-11del | Rotor syndrome [RCV001284820]|not provided [RCV001673043] | benign | 12 | 20815711 | 20815728 | Human | 1 | name |
| 150340076 | CV1168263 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1682+147A>C | not provided [RCV001534946] | benign | 12 | 20883749 | 20883749 | Human | | name |
| 150510586 | CV1211780 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1498-184T>C | not provided [RCV001597676] | benign | 12 | 20883234 | 20883234 | Human | | name |
| 150499605 | CV1224619 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1866-239C>T | not provided [RCV001620450] | benign | 12 | 20915765 | 20915765 | Human | | name |
| 150507044 | CV1226494 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1135+283A>G | not provided [RCV001635862] | benign | 12 | 20878219 | 20878219 | Human | | name |
| 150500597 | CV1256129 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1136-128T>G | not provided [RCV001676753] | benign | 12 | 20879308 | 20879308 | Human | | name |
| 150449880 | CV1260881 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1498-250A>G | not provided [RCV001680550] | benign | 12 | 20883168 | 20883168 | Human | | name |
| 150491570 | CV1267797 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1135+150A>G | not provided [RCV001687822] | benign | 12 | 20878086 | 20878086 | Human | | name |
| 150513046 | CV1285034 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1136-197C>T | not provided [RCV001721903] | benign | 12 | 20879239 | 20879239 | Human | | name |
| 21403830 | CV798983 | single nucleotide variant | NM_019844.4(SLCO1B3):c.727+2087T>C | Gilbert syndrome [RCV000999566] | benign | 12 | 20864941 | 20864941 | Human | 1 | name |
| 8653807 | CV130382 | single nucleotide variant | NM_019844.3(SLCO1B3):c.1683-6725T>C | Lung cancer [RCV000110869] | uncertain significance | 12 | 20891711 | 20891711 | Human | | name |
| 14693032 | CV620842 | deletion | NM_019844.4(SLCO1B3):c.360-3_362del | Rotor syndrome [RCV000778359] | uncertain significance | 12 | 20861011 | 20861016 | Human | | name |
| 151349855 | CV1321090 | deletion | NM_019844.4(SLCO1B3):c.481+12_481+25del | Rotor syndrome [RCV001803503] | likely benign | 12 | 20861148 | 20861161 | Human | 1 | name |
| 401783168 | CV2703847 | single nucleotide variant | NM_019844.4(SLCO1B3):c.4G>A (p.Asp2Asn) | not specified [RCV004306712] | uncertain significance | 12 | 20815742 | 20815742 | Human | | name |
| 15103353 | CV725038 | single nucleotide variant | NM_019844.4(SLCO1B3):c.69C>T (p.Arg23=) | Rotor syndrome [RCV001113023]|not provided [RCV000892655] | benign|likely benign | 12 | 20815807 | 20815807 | Human | 1 | name |
| 28869231 | CV869596 | single nucleotide variant | NM_019844.4(SLCO1B3):c.99C>T (p.Ala33=) | Rotor syndrome [RCV001113024] | uncertain significance | 12 | 20855042 | 20855042 | Human | 1 | name |
| 151349649 | CV1321530 | single nucleotide variant | NM_019844.4(SLCO1B3):c.264A>C (p.Gly88=) | Rotor syndrome [RCV001802512]|SLCO1B3-related disorder [RCV003948738] | likely benign | 12 | 20858476 | 20858476 | Human | 1 | name , trait , alternate_id |
| 405258821 | CV3215106 | single nucleotide variant | NM_019844.4(SLCO1B3):c.153C>T (p.Ser51=) | SLCO1B3-related disorder [RCV003942162] | likely benign | 12 | 20855096 | 20855096 | Human | | name , trait , alternate_id |
| 405282207 | CV3216311 | deletion | NM_019844.4(SLCO1B3):c.1136-13_1136-9del | SLCO1B3-related disorder [RCV003956821] | likely benign | 12 | 20879421 | 20879425 | Human | | name , trait , alternate_id |
| 12848856 | CV363770 | single nucleotide variant | NM_019844.4(SLCO1B3):c.11A>G (p.His4Arg) | Rotor syndrome [RCV001803696]|not provided [RCV000419546] | benign|likely benign | 12 | 20815749 | 20815749 | Human | 1 | name |
| 15163953 | CV702271 | variation | NM_019844.4(SLCO1B3):c.1833= (p.Gly611=) | not provided [RCV000948217] | benign | 12 | 20901435 | 20901435 | Human | | name |
| 28869226 | CV869595 | single nucleotide variant | NM_019844.4(SLCO1B3):c.26A>C (p.Lys9Thr) | Rotor syndrome [RCV001113022] | uncertain significance | 12 | 20815764 | 20815764 | Human | 1 | name |
| 126740217 | CV1021011 | single nucleotide variant | NM_019844.4(SLCO1B3):c.72C>A (p.Cys24Ter) | Rotor syndrome [RCV001335943] | pathogenic | 12 | 20815810 | 20815810 | Human | | name |
| 243060743 | CV2408721 | single nucleotide variant | NM_019844.4(SLCO1B3):c.67C>T (p.Arg23Cys) | Rotor syndrome [RCV003136851]|not specified [RCV004857961] | likely benign|uncertain significance | 12 | 20815805 | 20815805 | Human | 1 | name |
| 401855051 | CV2752734 | single nucleotide variant | NM_019844.4(SLCO1B3):c.83A>C (p.Lys28Thr) | Rotor syndrome [RCV003337788] | uncertain significance | 12 | 20815821 | 20815821 | Human | 1 | name |
| 405258979 | CV3194444 | single nucleotide variant | NM_019844.4(SLCO1B3):c.342A>G (p.Pro114=) | SLCO1B3-related disorder [RCV003893841] | likely benign | 12 | 20858554 | 20858554 | Human | | name , trait , alternate_id |
| 405259497 | CV3194863 | single nucleotide variant | NM_019844.4(SLCO1B3):c.300T>C (p.Gly100=) | SLCO1B3-related disorder [RCV003894250] | likely benign | 12 | 20858512 | 20858512 | Human | | name , trait , alternate_id |
| 405274314 | CV3195076 | single nucleotide variant | NM_019844.4(SLCO1B3):c.948A>G (p.Lys316=) | SLCO1B3-related disorder [RCV003902315] | likely benign | 12 | 20875455 | 20875455 | Human | | name , trait , alternate_id |
| 405269799 | CV3197956 | single nucleotide variant | NM_019844.4(SLCO1B3):c.489A>T (p.Val163=) | SLCO1B3-related disorder [RCV003899769] | likely benign | 12 | 20862419 | 20862419 | Human | | name , trait , alternate_id |
| 405269968 | CV3198055 | single nucleotide variant | NM_019844.4(SLCO1B3):c.702C>T (p.Tyr234=) | SLCO1B3-related disorder [RCV003899865] | likely benign | 12 | 20862829 | 20862829 | Human | | name , trait , alternate_id |
| 405286342 | CV3218706 | single nucleotide variant | NM_019844.4(SLCO1B3):c.840G>A (p.Pro280=) | Rotor syndrome [RCV005230608]|SLCO1B3-related disorder [RCV003959429] | likely benign | 12 | 20875347 | 20875347 | Human | 1 | name , trait , alternate_id |
| 11618218 | CV331394 | single nucleotide variant | NM_019844.4(SLCO1B3):c.759T>A (p.Arg253=) | Rotor syndrome [RCV000311520]|not provided [RCV000972497] | benign|likely benign | 12 | 20875266 | 20875266 | Human | 1 | name |
| 405771900 | CV3322497 | single nucleotide variant | NM_019844.4(SLCO1B3):c.97G>A (p.Ala33Thr) | not specified [RCV004457128] | uncertain significance | 12 | 20855040 | 20855040 | Human | | name |
| 407486503 | CV3481246 | single nucleotide variant | NM_019844.4(SLCO1B3):c.80T>G (p.Phe27Cys) | not specified [RCV004667398] | uncertain significance | 12 | 20815818 | 20815818 | Human | | name |
| 598127757 | CV3882861 | indel | NM_019844.4(SLCO1B3):c.727+1_727+2delinsA | Rotor syndrome [RCV005234392] | likely pathogenic | 12 | 20862855 | 20862856 | Human | | name |
| 14693030 | CV620432 | duplication | NM_019844.4(SLCO1B3):c.203dup (p.Leu68fs) | Rotor syndrome [RCV000778357] | uncertain significance | 12 | 20855143 | 20855144 | Human | | name |
| 14693031 | CV620433 | deletion | NM_019844.4(SLCO1B3):c.291del (p.Ile97fs) | Rotor syndrome [RCV000778358] | uncertain significance | 12 | 20858502 | 20858502 | Human | | name |
| 15197716 | CV753295 | single nucleotide variant | NM_019844.4(SLCO1B3):c.801A>G (p.Leu267=) | Rotor syndrome [RCV001113112]|not provided [RCV000912051] | benign|likely benign | 12 | 20875308 | 20875308 | Human | 1 | name |
| 28911327 | CV869601 | single nucleotide variant | NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) | Rotor syndrome [RCV001110374]|SLCO1B3-related disorder [RCV004751884] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 20861116 | 20861116 | Human | 1 | name , trait , alternate_id |
| 151349881 | CV1321114 | single nucleotide variant | NM_019844.4(SLCO1B3):c.227G>T (p.Gly76Val) | Rotor syndrome [RCV001803527] | uncertain significance | 12 | 20858439 | 20858439 | Human | 1 | name |
| 151349645 | CV1321521 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1974A>C (p.Ala658=) | Rotor syndrome [RCV001802503] | likely benign | 12 | 20916112 | 20916112 | Human | 1 | name |
| 156205864 | CV2311470 | single nucleotide variant | NM_019844.4(SLCO1B3):c.130G>A (p.Gly44Ser) | not specified [RCV004168311] | uncertain significance | 12 | 20855073 | 20855073 | Human | | name |
| 156448642 | CV2402051 | single nucleotide variant | NM_019844.4(SLCO1B3):c.263G>T (p.Gly88Val) | Rotor syndrome [RCV003120210]|SLCO1B3-related disorder [RCV003420557] | uncertain significance | 12 | 20858475 | 20858475 | Human | 1 | name , trait , alternate_id |
| 11551710 | CV254470 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1557A>G (p.Ala519=) | Rotor syndrome [RCV000328449]|not provided [RCV001538364]|not specified [RCV000253382] | benign | 12 | 20883477 | 20883477 | Human | 1 | name |
| 401729607 | CV2683737 | single nucleotide variant | NM_019844.4(SLCO1B3):c.292G>C (p.Gly98Arg) | not specified [RCV004284477] | uncertain significance | 12 | 20858504 | 20858504 | Human | | name |
| 401902182 | CV2804247 | single nucleotide variant | NM_019844.4(SLCO1B3):c.143T>C (p.Met48Thr) | SLCO1B3-related disorder [RCV003418801] | uncertain significance | 12 | 20855086 | 20855086 | Human | | name , trait , alternate_id |
| 402487977 | CV3081365 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1464A>G (p.Gly488=) | Rotor syndrome [RCV003643515] | likely benign | 12 | 20880987 | 20880987 | Human | 1 | name |
| 11605685 | CV316539 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1347A>G (p.Ala449=) | Rotor syndrome [RCV000322859]|not provided [RCV000963302] | benign|likely benign|uncertain significance | 12 | 20880870 | 20880870 | Human | 1 | name |
| 11610535 | CV316546 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=) | Rotor syndrome [RCV000383073]|SLCO1B3-related disorder [RCV003940174] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 20883513 | 20883513 | Human | 1 | name , trait , alternate_id |
| 405260143 | CV3190178 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1290C>T (p.Cys430=) | SLCO1B3-related disorder [RCV003894580] | likely benign | 12 | 20879590 | 20879590 | Human | | name , trait , alternate_id |
| 405274028 | CV3194953 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1068T>C (p.Phe356=) | SLCO1B3-related disorder [RCV003902195] | likely benign | 12 | 20877869 | 20877869 | Human | | name , trait , alternate_id |
| 405280395 | CV3200760 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1672T>C (p.Leu558=) | SLCO1B3-related disorder [RCV003977385] | likely benign | 12 | 20883592 | 20883592 | Human | | name , trait , alternate_id |
| 405269675 | CV3201740 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1371T>C (p.Ser457=) | SLCO1B3-related disorder [RCV003899647] | likely benign | 12 | 20880894 | 20880894 | Human | | name , trait , alternate_id |
| 405289552 | CV3205182 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1809C>G (p.Ser603=) | SLCO1B3-related disorder [RCV003961778] | likely benign | 12 | 20901411 | 20901411 | Human | | name , trait , alternate_id |
| 405294524 | CV3211750 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1980C>T (p.Asp660=) | SLCO1B3-related disorder [RCV003934435] | likely benign | 12 | 20916118 | 20916118 | Human | | name , trait , alternate_id |
| 405289413 | CV3218266 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1863T>C (p.Phe621=) | SLCO1B3-related disorder [RCV003983668] | likely benign | 12 | 20901465 | 20901465 | Human | | name , trait , alternate_id |
| 405289671 | CV3220884 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1956A>G (p.Gln652=) | SLCO1B3-related disorder [RCV003961856] | likely benign | 12 | 20916094 | 20916094 | Human | | name , trait , alternate_id |
| 11605294 | CV324045 | single nucleotide variant | NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu) | Rotor syndrome [RCV000318161]|SLCO1B3-related disorder [RCV003920276]|not provided [RCV000906015] | benign|likely benign|uncertain significance | 12 | 20855051 | 20855051 | Human | 1 | name , trait , alternate_id |
| 11608614 | CV324074 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1272A>G (p.Leu424=) | Rotor syndrome [RCV000357737]|SLCO1B3-related disorder [RCV003967887] | likely benign|uncertain significance | 12 | 20879572 | 20879572 | Human | 1 | name , trait , alternate_id |
| 11616300 | CV330039 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1614T>C (p.Val538=) | Rotor syndrome [RCV000293477]|SLCO1B3-related disorder [RCV003910135]|not provided [RCV005256592] | benign|likely benign|uncertain significance | 12 | 20883534 | 20883534 | Human | 1 | name , trait , alternate_id |
| 11620281 | CV330044 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1857A>T (p.Val619=) | Rotor syndrome [RCV000335190]|not provided [RCV000895730] | benign|likely benign|uncertain significance | 12 | 20901459 | 20901459 | Human | 1 | name |
| 11613344 | CV331406 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1308C>T (p.Ala436=) | Rotor syndrome [RCV000267645]|SLCO1B3-related disorder [RCV004751450] | likely benign|uncertain significance | 12 | 20879608 | 20879608 | Human | 1 | name , trait , alternate_id |
| 11616994 | CV331438 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) | Rotor syndrome [RCV000300209]|SLCO1B3-related disorder [RCV003977898]|not provided [RCV004706933] | benign|likely benign | 12 | 20916115 | 20916115 | Human | 4 | name , trait , alternate_id |
| 11616994 | CV331438 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) | Rotor syndrome [RCV000300209]|SLCO1B3-related disorder [RCV003977898]|not provided [RCV004706933] | benign|likely benign | 12 | 20916115 | 20916116 | Human | 4 | name , trait , alternate_id |
| 408385013 | CV3506577 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1065T>G (p.Ser355=) | SLCO1B3-related disorder [RCV004732250] | likely benign | 12 | 20877866 | 20877866 | Human | | name , trait , alternate_id |
| 408378738 | CV3515726 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1815C>T (p.Asn605=) | SLCO1B3-related disorder [RCV004752412] | likely benign | 12 | 20901417 | 20901417 | Human | | name , trait , alternate_id |
| 597777218 | CV3606964 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1683G>A (p.Lys561=) | not specified [RCV004872984] | likely benign | 12 | 20898436 | 20898436 | Human | | name |
| 12848939 | CV363963 | single nucleotide variant | NM_019844.4(SLCO1B3):c.154A>G (p.Ile52Val) | Rotor syndrome [RCV001803697]|SLCO1B3-related disorder [RCV003912601]|not provided [RCV000421123] | benign|uncertain significance | 12 | 20855097 | 20855097 | Human | 1 | name , trait , alternate_id |
| 598126121 | CV3881782 | single nucleotide variant | NM_019844.4(SLCO1B3):c.139A>T (p.Ile47Phe) | not provided [RCV005233333] | uncertain significance | 12 | 20855082 | 20855082 | Human | | name |
| 13436056 | CV433929 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1833G>A (p.Gly611=) | Rotor syndrome [RCV000506491]|not provided [RCV004708923] | benign | 12 | 20901435 | 20901435 | Human | 1 | name |
| 14693492 | CV620435 | deletion | NM_019844.4(SLCO1B3):c.977del (p.Phe326fs) | Rotor syndrome [RCV000779096] | uncertain significance | 12 | 20877773 | 20877773 | Human | | name |
| 15133413 | CV738584 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1074C>T (p.Tyr358=) | Rotor syndrome [RCV001114494]|not provided [RCV000898128] | likely benign|uncertain significance | 12 | 20877875 | 20877875 | Human | 1 | name |
| 15151668 | CV738585 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1101C>T (p.Tyr367=) | Rotor syndrome [RCV001114495]|SLCO1B3-related disorder [RCV003912870]|not provided [RCV000901412] | likely benign|uncertain significance | 12 | 20877902 | 20877902 | Human | 1 | name , trait , alternate_id |
| 28869234 | CV869597 | single nucleotide variant | NM_019844.4(SLCO1B3):c.147A>C (p.Lys49Asn) | Rotor syndrome [RCV001113025] | uncertain significance | 12 | 20855090 | 20855090 | Human | 1 | name |
| 28869238 | CV869598 | single nucleotide variant | NM_019844.4(SLCO1B3):c.148A>G (p.Ile50Val) | Rotor syndrome [RCV001113026] | uncertain significance | 12 | 20855091 | 20855091 | Human | 1 | name |
| 28869241 | CV869599 | single nucleotide variant | NM_019844.4(SLCO1B3):c.176T>C (p.Phe59Ser) | Rotor syndrome [RCV001113027]|not specified [RCV004032178] | uncertain significance | 12 | 20855119 | 20855119 | Human | 1 | name |
| 28872328 | CV869611 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1129T>C (p.Leu377=) | Rotor syndrome [RCV001114496] | uncertain significance | 12 | 20877930 | 20877930 | Human | 1 | name |
| 28911805 | CV869613 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1659C>T (p.Thr553=) | Rotor syndrome [RCV001111209] | uncertain significance | 12 | 20883579 | 20883579 | Human | 1 | name |
| 8634614 | CV89834 | single nucleotide variant | NM_019844.3(SLCO1B3):c.1200C>T (p.Phe400=) | Malignant melanoma [RCV000069931] | not provided | 12 | 20879500 | 20879500 | Human | | name |
| 8634615 | CV89835 | single nucleotide variant | NM_019844.3(SLCO1B3):c.1881C>T (p.Gly627=) | Malignant melanoma [RCV000069932] | not provided | 12 | 20916019 | 20916019 | Human | | name |
| 41404950 | CV981777 | single nucleotide variant | NM_019844.4(SLCO1B3):c.275A>G (p.His92Arg) | Rotor syndrome [RCV001284874] | uncertain significance | 12 | 20858487 | 20858487 | Human | 1 | name |
| 126736239 | CV1021013 | duplication | NM_019844.4(SLCO1B3):c.1637dup (p.Leu546fs) | Rotor syndrome [RCV001802587]|SLCO1B3-related disorder [RCV003968559] | pathogenic|uncertain significance | 12 | 20883554 | 20883555 | Human | 1 | name , trait , alternate_id |
| 150334369 | CV1172392 | deletion | NM_019844.4(SLCO1B3):c.1135+206_1135+228del | not provided [RCV001540008] | benign | 12 | 20878136 | 20878158 | Human | | name |
| 150505653 | CV1255528 | deletion | NM_019844.4(SLCO1B3):c.1682+250_1682+253del | not provided [RCV001677975] | benign | 12 | 20883849 | 20883852 | Human | | name |
| 156260886 | CV2204847 | single nucleotide variant | NM_019844.4(SLCO1B3):c.537G>A (p.Met179Ile) | not specified [RCV004075097] | uncertain significance | 12 | 20862467 | 20862467 | Human | | name |
| 156241464 | CV2265749 | single nucleotide variant | NM_019844.4(SLCO1B3):c.778C>A (p.Leu260Ile) | not specified [RCV004124458] | uncertain significance | 12 | 20875285 | 20875285 | Human | | name |
| 156125542 | CV2283642 | single nucleotide variant | NM_019844.4(SLCO1B3):c.676C>A (p.Leu226Met) | not specified [RCV004142184] | uncertain significance | 12 | 20862803 | 20862803 | Human | | name |
| 156003565 | CV2400897 | single nucleotide variant | NM_019844.4(SLCO1B3):c.722A>T (p.Asp241Val) | not specified [RCV004244189] | uncertain significance | 12 | 20862849 | 20862849 | Human | | name |
| 243060744 | CV2408722 | single nucleotide variant | NM_019844.4(SLCO1B3):c.956C>G (p.Thr319Ser) | Rotor syndrome [RCV003136852] | uncertain significance | 12 | 20875463 | 20875463 | Human | 1 | name |
| 243051182 | CV2415743 | single nucleotide variant | NM_019844.4(SLCO1B3):c.587T>C (p.Ile196Thr) | Rotor syndrome [RCV003148351] | uncertain significance | 12 | 20862517 | 20862517 | Human | 1 | name |
| 329391744 | CV2444997 | single nucleotide variant | NM_019844.4(SLCO1B3):c.697A>C (p.Met233Leu) | not specified [RCV004261615] | uncertain significance | 12 | 20862824 | 20862824 | Human | | name |
| 11526094 | CV247077 | single nucleotide variant | NM_019844.4(SLCO1B3):c.413G>T (p.Ser138Ile) | Rotor syndrome [RCV000378489]|not specified [RCV000239345] | pathogenic|uncertain significance | 12 | 20861070 | 20861070 | Human | 1 | name |
| 11545463 | CV254467 | single nucleotide variant | NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala) | Rotor syndrome [RCV000356421]|SLCO1B3-related disorder [RCV003891957]|not provided [RCV001709553] | benign | 12 | 20858546 | 20858546 | Human | 1 | name , trait , alternate_id |
| 11551494 | CV254469 | single nucleotide variant | NM_019844.4(SLCO1B3):c.699G>A (p.Met233Ile) | Rotor syndrome [RCV000351083]|SLCO1B3-related disorder [RCV003891958]|not provided [RCV001651237] | benign | 12 | 20862826 | 20862826 | Human | 1 | name , trait , alternate_id |
| 401720178 | CV2705741 | single nucleotide variant | NM_019844.4(SLCO1B3):c.647G>T (p.Gly216Val) | not specified [RCV004318581] | uncertain significance | 12 | 20862774 | 20862774 | Human | | name |
| 401936144 | CV2796312 | single nucleotide variant | NM_019844.4(SLCO1B3):c.763G>C (p.Val255Leu) | SLCO1B3-related disorder [RCV003414115] | uncertain significance | 12 | 20875270 | 20875270 | Human | | name , trait , alternate_id |
| 401906079 | CV2802326 | single nucleotide variant | NM_019844.4(SLCO1B3):c.485G>A (p.Cys162Tyr) | SLCO1B3-related disorder [RCV003421016] | uncertain significance | 12 | 20862415 | 20862415 | Human | | name , trait , alternate_id |
| 11609481 | CV316533 | single nucleotide variant | NM_019844.4(SLCO1B3):c.767G>C (p.Gly256Ala) | Rotor syndrome [RCV000368578]|not provided [RCV004706932] | benign|likely benign | 12 | 20875274 | 20875274 | Human | 2 | name |
| 11598692 | CV324048 | single nucleotide variant | NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) | Rotor syndrome [RCV000259250]|not provided [RCV000927538] | benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 20858547 | 20858547 | Human | 2 | name |
| 11598692 | CV324048 | single nucleotide variant | NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) | Rotor syndrome [RCV000259250]|not provided [RCV000927538] | benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 20858547 | 20858548 | Human | 2 | name |
| 11601929 | CV324053 | single nucleotide variant | NM_019844.4(SLCO1B3):c.439A>G (p.Thr147Ala) | Rotor syndrome [RCV000286680]|not provided [RCV000947440] | benign|likely benign | 12 | 20861096 | 20861096 | Human | 1 | name |
| 11605523 | CV324054 | single nucleotide variant | NM_019844.4(SLCO1B3):c.471A>G (p.Ile157Met) | Rotor syndrome [RCV000320638] | uncertain significance | 12 | 20861128 | 20861128 | Human | 1 | name |
| 11602377 | CV324055 | single nucleotide variant | NM_019844.4(SLCO1B3):c.542G>A (p.Arg181His) | Rotor syndrome [RCV000290108]|SLCO1B3-related disorder [RCV003957598]|not provided [RCV000890741] | likely benign|uncertain significance | 12 | 20862472 | 20862472 | Human | 1 | name , trait , alternate_id |
| 11607802 | CV324062 | single nucleotide variant | NM_019844.4(SLCO1B3):c.592G>A (p.Asp198Asn) | Rotor syndrome [RCV000347598]|SLCO1B3-related disorder [RCV003417986] | uncertain significance | 12 | 20862522 | 20862522 | Human | 1 | name , trait , alternate_id |
| 11602213 | CV324066 | single nucleotide variant | NM_019844.4(SLCO1B3):c.676C>G (p.Leu226Val) | Rotor syndrome [RCV000289150] | benign|likely benign|uncertain significance | 12 | 20862803 | 20862803 | Human | 1 | name |
| 11616702 | CV330023 | single nucleotide variant | NM_019844.4(SLCO1B3):c.988A>G (p.Lys330Glu) | Rotor syndrome [RCV000297252]|SLCO1B3-related disorder [RCV003930303] | uncertain significance | 12 | 20877789 | 20877789 | Human | 1 | name , trait , alternate_id |
| 11661534 | CV331393 | single nucleotide variant | NM_019844.4(SLCO1B3):c.518A>G (p.Tyr173Cys) | Rotor syndrome [RCV000377542] | uncertain significance | 12 | 20862448 | 20862448 | Human | 1 | name |
| 405771888 | CV3322495 | single nucleotide variant | NM_019844.4(SLCO1B3):c.646G>A (p.Gly216Arg) | not specified [RCV004457126] | uncertain significance | 12 | 20862773 | 20862773 | Human | | name |
| 405771894 | CV3322496 | single nucleotide variant | NM_019844.4(SLCO1B3):c.745C>T (p.Pro249Ser) | not specified [RCV004457127] | uncertain significance | 12 | 20875252 | 20875252 | Human | | name |
| 407486507 | CV3481247 | single nucleotide variant | NM_019844.4(SLCO1B3):c.358T>C (p.Tyr120His) | not specified [RCV004667399] | uncertain significance | 12 | 20858570 | 20858570 | Human | | name |
| 408377507 | CV3508504 | single nucleotide variant | NM_019844.4(SLCO1B3):c.509T>C (p.Met170Thr) | SLCO1B3-related disorder [RCV004751041] | uncertain significance | 12 | 20862439 | 20862439 | Human | | name , trait , alternate_id |
| 597777210 | CV3606961 | single nucleotide variant | NM_019844.4(SLCO1B3):c.298G>A (p.Gly100Ser) | not specified [RCV004872982] | uncertain significance | 12 | 20858510 | 20858510 | Human | | name |
| 597777214 | CV3606963 | single nucleotide variant | NM_019844.4(SLCO1B3):c.911A>T (p.Asp304Val) | not specified [RCV004872983] | uncertain significance | 12 | 20875418 | 20875418 | Human | | name |
| 597777222 | CV3606965 | single nucleotide variant | NM_019844.4(SLCO1B3):c.556A>G (p.Thr186Ala) | not specified [RCV004872985] | uncertain significance | 12 | 20862486 | 20862486 | Human | | name |
| 597777226 | CV3606966 | single nucleotide variant | NM_019844.4(SLCO1B3):c.721G>C (p.Asp241His) | not specified [RCV004872986] | uncertain significance | 12 | 20862848 | 20862848 | Human | | name |
| 597777232 | CV3606967 | single nucleotide variant | NM_019844.4(SLCO1B3):c.713G>C (p.Gly238Ala) | not specified [RCV004872987] | uncertain significance | 12 | 20862840 | 20862840 | Human | | name |
| 597777236 | CV3606968 | single nucleotide variant | NM_019844.4(SLCO1B3):c.763G>T (p.Val255Phe) | not specified [RCV004872988] | uncertain significance | 12 | 20875270 | 20875270 | Human | | name |
| 598128162 | CV3883181 | single nucleotide variant | NM_019844.4(SLCO1B3):c.452A>G (p.Asn151Ser) | Rotor syndrome [RCV005234714] | uncertain significance | 12 | 20861109 | 20861109 | Human | 1 | name |
| 598260834 | CV3922186 | single nucleotide variant | NM_019844.4(SLCO1B3):c.740T>A (p.Ile247Lys) | not specified [RCV005279862] | uncertain significance | 12 | 20875247 | 20875247 | Human | | name |
| 598260843 | CV3922188 | single nucleotide variant | NM_019844.4(SLCO1B3):c.971G>T (p.Gly324Val) | not specified [RCV005279864] | uncertain significance | 12 | 20877772 | 20877772 | Human | | name |
| 14393892 | CV609824 | single nucleotide variant | NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly) | Rotor syndrome [RCV001110375]|not provided [RCV000756666] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 20862414 | 20862414 | Human | 1 | name |
| 21405508 | CV799669 | single nucleotide variant | NM_019844.4(SLCO1B3):c.404C>T (p.Ser135Leu) | Rotor syndrome [RCV001114405]|not specified [RCV001000624] | uncertain significance | 12 | 20861061 | 20861061 | Human | 1 | name |
| 28872123 | CV869600 | single nucleotide variant | NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser) | Rotor syndrome [RCV001114406]|SLCO1B3-related disorder [RCV003918698] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 20861091 | 20861091 | Human | 1 | name , trait , alternate_id |
| 28911328 | CV869602 | single nucleotide variant | NM_019844.4(SLCO1B3):c.541C>T (p.Arg181Cys) | Rotor syndrome [RCV001110376] | uncertain significance | 12 | 20862471 | 20862471 | Human | 1 | name |
| 28911329 | CV869603 | single nucleotide variant | NM_019844.4(SLCO1B3):c.557C>A (p.Thr186Asn) | Rotor syndrome [RCV001110377] | uncertain significance | 12 | 20862487 | 20862487 | Human | 1 | name |
| 28911754 | CV869604 | single nucleotide variant | NM_019844.4(SLCO1B3):c.645A>G (p.Ile215Met) | Rotor syndrome [RCV001111116]|SLCO1B3-related disorder [RCV003945817] | likely benign|uncertain significance | 12 | 20862772 | 20862772 | Human | 1 | name , trait , alternate_id |
| 28911755 | CV869605 | single nucleotide variant | NM_019844.4(SLCO1B3):c.712G>A (p.Gly238Arg) | Rotor syndrome [RCV001111117] | uncertain significance | 12 | 20862839 | 20862839 | Human | 1 | name |
| 28869411 | CV869606 | single nucleotide variant | NM_019844.4(SLCO1B3):c.731C>G (p.Thr244Ser) | Rotor syndrome [RCV001113109] | uncertain significance | 12 | 20875238 | 20875238 | Human | 1 | name |
| 28869414 | CV869607 | single nucleotide variant | NM_019844.4(SLCO1B3):c.757C>T (p.Arg253Cys) | Rotor syndrome [RCV001113110] | uncertain significance | 12 | 20875264 | 20875264 | Human | 1 | name |
| 28869418 | CV869608 | single nucleotide variant | NM_019844.4(SLCO1B3):c.758G>A (p.Arg253His) | Rotor syndrome [RCV001113111] | uncertain significance | 12 | 20875265 | 20875265 | Human | 1 | name |
| 28869421 | CV869609 | single nucleotide variant | NM_019844.4(SLCO1B3):c.803T>G (p.Phe268Cys) | Rotor syndrome [RCV001113113] | uncertain significance | 12 | 20875310 | 20875310 | Human | 1 | name |
| 28869424 | CV869610 | single nucleotide variant | NM_019844.4(SLCO1B3):c.973T>A (p.Phe325Ile) | Rotor syndrome [RCV001113114] | uncertain significance | 12 | 20877774 | 20877774 | Human | 1 | name |
| 41407381 | CV981778 | single nucleotide variant | NM_019844.4(SLCO1B3):c.560C>G (p.Pro187Arg) | Rotor syndrome [RCV001289726] | uncertain significance | 12 | 20862490 | 20862490 | Human | 1 | name |
| 41405803 | CV981779 | single nucleotide variant | NM_019844.4(SLCO1B3):c.683C>A (p.Ser228Tyr) | Rotor syndrome [RCV001287540] | uncertain significance | 12 | 20862810 | 20862810 | Human | 1 | name |
| 126741558 | CV1017593 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1848T>A (p.Tyr616Ter) | Rotor syndrome [RCV001329723] | pathogenic | 12 | 20901450 | 20901450 | Human | | name |
| 156398125 | CV2204273 | single nucleotide variant | NM_019844.4(SLCO1B3):c.2090A>G (p.Asp697Gly) | not specified [RCV004079104] | uncertain significance | 12 | 20916228 | 20916228 | Human | | name |
| 155975251 | CV2231288 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1480G>C (p.Gly494Arg) | not specified [RCV004094770] | uncertain significance | 12 | 20881003 | 20881003 | Human | | name |
| 155988407 | CV2234206 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1334A>G (p.Asn445Ser) | not specified [RCV004106288] | uncertain significance | 12 | 20880857 | 20880857 | Human | | name |
| 155936523 | CV2379844 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1102G>A (p.Gly368Ser) | not specified [RCV004219954] | uncertain significance | 12 | 20877903 | 20877903 | Human | | name |
| 156105644 | CV2387030 | single nucleotide variant | NM_019844.4(SLCO1B3):c.2041G>A (p.Val681Ile) | not specified [RCV004226780] | uncertain significance | 12 | 20916179 | 20916179 | Human | | name |
| 243060737 | CV2408715 | single nucleotide variant | NM_019844.4(SLCO1B3):c.2105A>G (p.Asn702Ser) | Rotor syndrome [RCV003136845]|not specified [RCV004246058] | uncertain significance | 12 | 20916243 | 20916243 | Human | 1 | name |
| 243060738 | CV2408716 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1364C>G (p.Pro455Arg) | Rotor syndrome [RCV003136846] | uncertain significance | 12 | 20880887 | 20880887 | Human | 1 | name |
| 243060740 | CV2408718 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1147A>G (p.Ile383Val) | Rotor syndrome [RCV003136848]|not specified [RCV004246059] | uncertain significance | 12 | 20879447 | 20879447 | Human | 1 | name |
| 243060741 | CV2408719 | single nucleotide variant | NM_019844.4(SLCO1B3):c.2020T>A (p.Leu674Ile) | Rotor syndrome [RCV003136849] | uncertain significance | 12 | 20916158 | 20916158 | Human | 1 | name |
| 243060742 | CV2408720 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1291G>A (p.Glu431Lys) | Rotor syndrome [RCV003136850] | uncertain significance | 12 | 20879591 | 20879591 | Human | 1 | name |
| 243060746 | CV2408724 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1241C>A (p.Thr414Asn) | Rotor syndrome [RCV003136854] | uncertain significance | 12 | 20879541 | 20879541 | Human | 1 | name |
| 243060747 | CV2408725 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1363C>G (p.Pro455Ala) | Rotor syndrome [RCV003136855] | uncertain significance | 12 | 20880886 | 20880886 | Human | 1 | name |
| 243060749 | CV2408727 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1685T>C (p.Ile562Thr) | Rotor syndrome [RCV003136857] | uncertain significance | 12 | 20898438 | 20898438 | Human | 1 | name |
| 243060750 | CV2408728 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1205T>C (p.Leu402Ser) | Rotor syndrome [RCV003136858]|not specified [RCV004246060] | uncertain significance | 12 | 20879505 | 20879505 | Human | 1 | name |
| 243060751 | CV2408729 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1274A>G (p.Tyr425Cys) | Rotor syndrome [RCV003136859] | uncertain significance | 12 | 20879574 | 20879574 | Human | 1 | name |
| 329382260 | CV2467578 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1730T>A (p.Met577Lys) | not specified [RCV004287168] | uncertain significance | 12 | 20898483 | 20898483 | Human | | name |
| 329388302 | CV2468870 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1987A>G (p.Arg663Gly) | not specified [RCV004280173] | uncertain significance | 12 | 20916125 | 20916125 | Human | | name |
| 401744551 | CV2680986 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1615G>C (p.Ala539Pro) | not specified [RCV004296054] | uncertain significance | 12 | 20883535 | 20883535 | Human | | name |
| 401867073 | CV2792598 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1997T>C (p.Met666Thr) | not specified [RCV004363626] | uncertain significance | 12 | 20916135 | 20916135 | Human | | name |
| 401902932 | CV2797651 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1226A>G (p.Lys409Arg) | SLCO1B3-related disorder [RCV003419157] | uncertain significance | 12 | 20879526 | 20879526 | Human | | name , trait , alternate_id |
| 401909069 | CV2798538 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1123A>C (p.Asn375His) | SLCO1B3-related disorder [RCV003397676] | uncertain significance | 12 | 20877924 | 20877924 | Human | | name , trait , alternate_id |
| 401936541 | CV2798692 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1720T>C (p.Phe574Leu) | SLCO1B3-related disorder [RCV003414557] | uncertain significance | 12 | 20898473 | 20898473 | Human | | name , trait , alternate_id |
| 401931871 | CV2801702 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1825G>A (p.Ala609Thr) | SLCO1B3-related disorder [RCV003408527] | uncertain significance | 12 | 20901427 | 20901427 | Human | | name , trait , alternate_id |
| 402487966 | CV3081284 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1200C>A (p.Phe400Leu) | Rotor syndrome [RCV003643513] | uncertain significance | 12 | 20879500 | 20879500 | Human | 1 | name |
| 402487970 | CV3081343 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1843A>G (p.Ile615Val) | Rotor syndrome [RCV003643514] | uncertain significance | 12 | 20901445 | 20901445 | Human | 1 | name |
| 402487999 | CV3081519 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1732G>C (p.Val578Leu) | Rotor syndrome [RCV003643518] | uncertain significance | 12 | 20898485 | 20898485 | Human | 1 | name |
| 11605591 | CV316537 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1241C>T (p.Thr414Ile) | Rotor syndrome [RCV000321755]|SLCO1B3-related disorder [RCV003920277]|not provided [RCV004703622] | likely benign|uncertain significance | 12 | 20879541 | 20879541 | Human | 1 | name , trait , alternate_id |
| 11610458 | CV316545 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1366C>T (p.Leu456Phe) | Rotor syndrome [RCV000382072]|SLCO1B3-related disorder [RCV003940173] | likely benign|uncertain significance | 12 | 20880889 | 20880889 | Human | 1 | name , trait , alternate_id |
| 405258877 | CV3194166 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1258T>G (p.Leu420Val) | SLCO1B3-related disorder [RCV003893747] | likely benign | 12 | 20879558 | 20879558 | Human | | name , trait , alternate_id |
| 405259750 | CV3195210 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1328A>G (p.Asp443Gly) | SLCO1B3-related disorder [RCV003894406] | uncertain significance | 12 | 20879628 | 20879628 | Human | | name , trait , alternate_id |
| 405289473 | CV3205196 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1714A>G (p.Met572Val) | SLCO1B3-related disorder [RCV003961789] | likely benign | 12 | 20898467 | 20898467 | Human | | name , trait , alternate_id |
| 11659299 | CV324068 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1004A>G (p.Asn335Ser) | Rotor syndrome [RCV000356734] | uncertain significance | 12 | 20877805 | 20877805 | Human | 1 | name |
| 11607264 | CV324078 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1992A>C (p.Lys664Asn) | Rotor syndrome [RCV000341210] | uncertain significance | 12 | 20916130 | 20916130 | Human | 1 | name |
| 11649427 | CV331407 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1432G>C (p.Gly478Arg) | Rotor syndrome [RCV000287450] | uncertain significance | 12 | 20880955 | 20880955 | Human | 1 | name |
| 11614835 | CV331423 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1855G>A (p.Val619Ile) | Rotor syndrome [RCV000280116]|SLCO1B3-related disorder [RCV003910136] | likely benign|uncertain significance | 12 | 20901457 | 20901457 | Human | 1 | name , trait , alternate_id |
| 405771864 | CV3322491 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1056T>G (p.Phe352Leu) | not specified [RCV004457122] | uncertain significance | 12 | 20877857 | 20877857 | Human | | name |
| 405771871 | CV3322492 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1141A>G (p.Ile381Val) | not specified [RCV004457123] | uncertain significance | 12 | 20879441 | 20879441 | Human | | name |
| 405771877 | CV3322493 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1180G>A (p.Gly394Arg) | not specified [RCV004457124] | uncertain significance | 12 | 20879480 | 20879480 | Human | | name |
| 405771883 | CV3322494 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1982A>G (p.Asn661Ser) | not specified [RCV004457125] | uncertain significance | 12 | 20916120 | 20916120 | Human | | name |
| 407489433 | CV3481248 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1289G>A (p.Cys430Tyr) | not specified [RCV004683895] | uncertain significance | 12 | 20879589 | 20879589 | Human | | name |
| 408378506 | CV3512226 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1150C>A (p.Pro384Thr) | SLCO1B3-related disorder [RCV004752227] | uncertain significance | 12 | 20879450 | 20879450 | Human | | name , trait , alternate_id |
| 408378571 | CV3514329 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1244C>T (p.Ser415Leu) | SLCO1B3-related disorder [RCV004752335] | uncertain significance | 12 | 20879544 | 20879544 | Human | | name , trait , alternate_id |
| 408378700 | CV3515442 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1648A>G (p.Thr550Ala) | SLCO1B3-related disorder [RCV004752394] | uncertain significance | 12 | 20883568 | 20883568 | Human | | name , trait , alternate_id |
| 408378822 | CV3516492 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1154C>T (p.Thr385Met) | SLCO1B3-related disorder [RCV004752456] | uncertain significance | 12 | 20879454 | 20879454 | Human | | name , trait , alternate_id |
| 597777207 | CV3606959 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1976C>T (p.Ser659Leu) | not specified [RCV004872981] | likely benign | 12 | 20916114 | 20916114 | Human | | name |
| 597725636 | CV3606960 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1654G>A (p.Gly552Ser) | not specified [RCV004862458] | likely benign | 12 | 20883574 | 20883574 | Human | | name |
| 597725648 | CV3606962 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1583A>G (p.Asn528Ser) | not specified [RCV004862459] | uncertain significance | 12 | 20883503 | 20883503 | Human | | name |
| 598127599 | CV3882766 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1884A>C (p.Leu628Phe) | Rotor syndrome [RCV005234297] | uncertain significance | 12 | 20916022 | 20916022 | Human | 1 | name |
| 598237755 | CV3922185 | single nucleotide variant | NM_019844.4(SLCO1B3):c.2024A>G (p.Asn675Ser) | not specified [RCV005275716] | uncertain significance | 12 | 20916162 | 20916162 | Human | | name |
| 598260839 | CV3922187 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1922T>C (p.Ile641Thr) | not specified [RCV005279863] | uncertain significance | 12 | 20916060 | 20916060 | Human | | name |
| 617150012 | CV4021601 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1465T>C (p.Cys489Arg) | not provided [RCV005425570] | uncertain significance | 12 | 20880988 | 20880988 | Human | | name |
| 15124310 | CV738586 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) | Rotor syndrome [RCV001111210]|not provided [RCV000896565] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 20883599 | 20883599 | Human | 1 | name |
| 21406063 | CV799671 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1313T>C (p.Leu438Pro) | Rotor syndrome [RCV003642935]|SLCO1B3-related disorder [RCV003973022] | likely benign|uncertain significance | 12 | 20879613 | 20879613 | Human | 1 | name , trait , alternate_id |
| 21406131 | CV799672 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1610A>G (p.Tyr537Cys) | Rotor syndrome [RCV001803208]|SLCO1B3-related disorder [RCV003424527] | uncertain significance | 12 | 20883530 | 20883530 | Human | 1 | name , trait , alternate_id |
| 21406100 | CV799673 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1712C>G (p.Ala571Gly) | Rotor syndrome [RCV003642936]|SLCO1B3-related disorder [RCV003424526]|not provided [RCV004693432] | uncertain significance | 12 | 20898465 | 20898465 | Human | 1 | name , trait , alternate_id |
| 8627245 | CV82389 | single nucleotide variant | NM_019844.3(SLCO1B3):c.1774G>T (p.Gly592Trp) | Malignant melanoma [RCV000062468] | not provided | 12 | 20901376 | 20901376 | Human | | name |
| 28872330 | CV869612 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1217G>A (p.Gly406Glu) | Rotor syndrome [RCV001114497] | uncertain significance | 12 | 20879517 | 20879517 | Human | 1 | name |
| 28911806 | CV869614 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1741A>G (p.Thr581Ala) | Rotor syndrome [RCV001111211] | uncertain significance | 12 | 20898494 | 20898494 | Human | 1 | name |
| 8634616 | CV89836 | single nucleotide variant | NM_019844.3(SLCO1B3):c.2002G>A (p.Glu668Lys) | Malignant melanoma [RCV000069933] | not provided | 12 | 20916140 | 20916140 | Human | | name |
| 41405355 | CV981780 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1309G>A (p.Gly437Ser) | Rotor syndrome [RCV001286075] | uncertain significance | 12 | 20879609 | 20879609 | Human | 1 | name |
| 41407368 | CV981781 | single nucleotide variant | NM_019844.4(SLCO1B3):c.1598A>G (p.Lys533Arg) | Rotor syndrome [RCV001289695] | uncertain significance | 12 | 20883518 | 20883518 | Human | 1 | name |
| 243060739 | CV2408717 | deletion | NM_019844.4(SLCO1B3):c.170_174del (p.Arg57fs) | Rotor syndrome [RCV003136847] | uncertain significance | 12 | 20855112 | 20855116 | Human | 1 | name |
| 15173171 | CV725039 | duplication | NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs) | Rotor syndrome [RCV000988797]|SLCO1B3-related disorder [RCV003975559]|not provided [RCV000883983] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 20855146 | 20855147 | Human | 1 | name , trait , alternate_id |
| 11612028 | CV316535 | deletion | NM_019844.4(SLCO1B3):c.853_856del (p.Lys285fs) | Rotor syndrome [RCV000402803] | conflicting interpretations of pathogenicity|uncertain significance | 12 | 20875360 | 20875363 | Human | | name |
| 408377641 | CV3510244 | deletion | NM_019844.4(SLCO1B3):c.141_143del (p.Ile47del) | SLCO1B3-related disorder [RCV004751133] | likely benign | 12 | 20855082 | 20855084 | Human | | name , trait , alternate_id |
| 14693490 | CV620434 | microsatellite | NM_019844.4(SLCO1B3):c.432_435del (p.Asn145fs) | Rotor syndrome [RCV000779094] | uncertain significance | 12 | 20861084 | 20861087 | Human | | name |
| 156369612 | CV2194034 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-48000G>C | not specified [RCV004076798] | uncertain significance | 12 | 21019319 | 21019319 | Human | | name |
| 156079516 | CV2226548 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-15161G>A | not specified [RCV004101807] | uncertain significance | 12 | 21052158 | 21052158 | Human | | name |
| 156388315 | CV2231780 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-48068A>G | not specified [RCV004098592] | uncertain significance | 12 | 21019251 | 21019251 | Human | | name |
| 156033560 | CV2236280 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44346A>G | not specified [RCV004107980] | uncertain significance | 12 | 21022973 | 21022973 | Human | | name |
| 155942907 | CV2244832 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-51617A>T | not specified [RCV004104594] | uncertain significance | 12 | 21015702 | 21015702 | Human | | name |
| 156160001 | CV2262632 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44079G>A | not specified [RCV004130830] | uncertain significance | 12 | 21023240 | 21023240 | Human | | name |
| 156278737 | CV2284978 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-15138G>A | not specified [RCV004143414] | uncertain significance | 12 | 21052181 | 21052181 | Human | | name |
| 156202517 | CV2313226 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-12738T>G | not specified [RCV004161478] | uncertain significance | 12 | 21054581 | 21054581 | Human | | name |
| 156180090 | CV2331434 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-47968G>C | not specified [RCV004184068] | uncertain significance | 12 | 21019351 | 21019351 | Human | | name |
| 156127898 | CV2358327 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-48009A>G | not specified [RCV004214141] | uncertain significance | 12 | 21019310 | 21019310 | Human | | name |
| 156386677 | CV2364816 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23892T>C | not specified [RCV004219682] | uncertain significance | 12 | 21043427 | 21043427 | Human | | name |
| 155962176 | CV2388180 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-12774A>T | not specified [RCV004234642] | uncertain significance | 12 | 21054545 | 21054545 | Human | | name |
| 243060748 | CV2408726 | deletion | NM_019844.4(SLCO1B3):c.446_448del (p.Ser149del) | Rotor syndrome [RCV003136856]|SLCO1B3-related disorder [RCV003928954] | uncertain significance | 12 | 20861101 | 20861103 | Human | 1 | name , trait , alternate_id |
| 329372801 | CV2434022 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-20110T>G | not specified [RCV004249926] | uncertain significance | 12 | 21047209 | 21047209 | Human | | name |
| 329394042 | CV2450042 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23808A>C | not specified [RCV004269093] | uncertain significance | 12 | 21043511 | 21043511 | Human | | name |
| 329376448 | CV2472025 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-15156G>A | not specified [RCV004283173] | uncertain significance | 12 | 21052163 | 21052163 | Human | | name |
| 401721019 | CV2673571 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-48017C>T | not specified [RCV004288533] | uncertain significance | 12 | 21019302 | 21019302 | Human | | name |
| 401745196 | CV2681215 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-15125A>G | not specified [RCV004289354] | uncertain significance | 12 | 21052194 | 21052194 | Human | | name |
| 401867376 | CV2766671 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-18529T>G | not specified [RCV004347280] | uncertain significance | 12 | 21048790 | 21048790 | Human | | name |
| 401866019 | CV2775382 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-51569G>T | not specified [RCV004348785] | uncertain significance | 12 | 21015750 | 21015750 | Human | | name |
| 405771906 | CV3322498 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-18497A>G | not specified [RCV004457129] | uncertain significance | 12 | 21048822 | 21048822 | Human | | name |
| 405771912 | CV3322499 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-18434G>A | not specified [RCV004457130] | uncertain significance | 12 | 21048885 | 21048885 | Human | | name |
| 405771918 | CV3322500 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-18425T>G | not specified [RCV004457131] | uncertain significance | 12 | 21048894 | 21048894 | Human | | name |
| 405771923 | CV3322501 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-12809C>T | not specified [RCV004457132] | likely benign | 12 | 21054510 | 21054510 | Human | | name |
| 405771928 | CV3322502 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-12781T>A | not specified [RCV004457133] | uncertain significance | 12 | 21054538 | 21054538 | Human | | name |
| 405771938 | CV3322504 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-45827C>A | not specified [RCV004457135] | uncertain significance | 12 | 21021492 | 21021492 | Human | | name |
| 405771944 | CV3322505 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44356T>G | not specified [RCV004457136] | uncertain significance | 12 | 21022963 | 21022963 | Human | | name |
| 405771950 | CV3322506 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44341C>T | not specified [RCV004457137] | uncertain significance | 12 | 21022978 | 21022978 | Human | | name |
| 405771956 | CV3322507 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44121A>G | not specified [RCV004457138] | uncertain significance | 12 | 21023198 | 21023198 | Human | | name |
| 405771961 | CV3322508 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44112G>A | not specified [RCV004457139] | uncertain significance | 12 | 21023207 | 21023207 | Human | | name |
| 405771967 | CV3322509 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44108G>A | not specified [RCV004457140] | uncertain significance | 12 | 21023211 | 21023211 | Human | | name |
| 405771973 | CV3322510 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44044T>C | not specified [RCV004457141] | uncertain significance | 12 | 21023275 | 21023275 | Human | | name |
| 405771979 | CV3322511 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23817T>C | not specified [RCV004457142] | uncertain significance | 12 | 21043502 | 21043502 | Human | | name |
| 405771985 | CV3322512 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23787C>A | not specified [RCV004457143] | uncertain significance | 12 | 21043532 | 21043532 | Human | | name |
| 405771991 | CV3322513 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-20266G>C | not specified [RCV004457144] | uncertain significance | 12 | 21047053 | 21047053 | Human | | name |
| 405771996 | CV3322514 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-48071G>A | not specified [RCV004457145] | uncertain significance | 12 | 21019248 | 21019248 | Human | | name |
| 407493501 | CV3481249 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-18421C>T | not specified [RCV004667400] | uncertain significance | 12 | 21048898 | 21048898 | Human | | name |
| 407493506 | CV3481250 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-45745T>C | not specified [RCV004667401] | uncertain significance | 12 | 21021574 | 21021574 | Human | | name |
| 407493511 | CV3481251 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-18512G>A | not specified [RCV004667402] | uncertain significance | 12 | 21048807 | 21048807 | Human | | name |
| 407493513 | CV3481252 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23955G>A | not specified [RCV004667403] | uncertain significance | 12 | 21043364 | 21043364 | Human | | name |
| 407452124 | CV3481253 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-18511C>A | not specified [RCV004683896] | uncertain significance | 12 | 21048808 | 21048808 | Human | | name |
| 407452127 | CV3481254 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23953T>A | not specified [RCV004683897] | uncertain significance | 12 | 21043366 | 21043366 | Human | | name |
| 407493518 | CV3481255 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-18592C>G | not specified [RCV004667404] | uncertain significance | 12 | 21048727 | 21048727 | Human | | name |
| 407452130 | CV3481257 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44413C>T | not specified [RCV004683898] | uncertain significance | 12 | 21022906 | 21022906 | Human | | name |
| 597777240 | CV3606969 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-45804C>G | not specified [RCV004872989] | uncertain significance | 12 | 21021515 | 21021515 | Human | | name |
| 597777244 | CV3606971 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-18557A>G | not specified [RCV004872990] | uncertain significance | 12 | 21048762 | 21048762 | Human | | name |
| 597777248 | CV3606972 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-20177G>A | not specified [RCV004872991] | uncertain significance | 12 | 21047142 | 21047142 | Human | | name |
| 597777257 | CV3606974 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-45748T>C | not specified [RCV004872993] | uncertain significance | 12 | 21021571 | 21021571 | Human | | name |
| 597777261 | CV3606975 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-20176C>T | not specified [RCV004872994] | uncertain significance | 12 | 21047143 | 21047143 | Human | | name |
| 597725664 | CV3606976 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-15210A>G | not specified [RCV004862461] | uncertain significance | 12 | 21052109 | 21052109 | Human | | name |
| 597777269 | CV3606978 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-15195G>T | not specified [RCV004872996] | uncertain significance | 12 | 21052124 | 21052124 | Human | | name |
| 597777273 | CV3606979 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-48002T>C | not specified [RCV004872997] | uncertain significance | 12 | 21019317 | 21019317 | Human | | name |
| 597777277 | CV3606980 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44089T>C | not specified [RCV004872998] | uncertain significance | 12 | 21023230 | 21023230 | Human | | name |
| 597777282 | CV3606981 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23899T>C | not specified [RCV004872999] | uncertain significance | 12 | 21043420 | 21043420 | Human | | name |
| 597777286 | CV3606982 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-15189C>G | not specified [RCV004873000] | uncertain significance | 12 | 21052130 | 21052130 | Human | | name |
| 598260851 | CV3922189 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23956C>T | not specified [RCV005279865] | uncertain significance | 12 | 21043363 | 21043363 | Human | | name |
| 598260854 | CV3922190 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23758A>G | not specified [RCV005279866] | uncertain significance | 12 | 21043561 | 21043561 | Human | | name |
| 598260863 | CV3922192 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-45766A>G | not specified [RCV005279868] | uncertain significance | 12 | 21021553 | 21021553 | Human | | name |
| 598260868 | CV3922193 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-12726C>G | not specified [RCV005279869] | uncertain significance | 12 | 21054593 | 21054593 | Human | | name |
| 598260879 | CV3922195 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-45758C>T | not specified [RCV005279871] | likely benign | 12 | 21021561 | 21021561 | Human | | name |
| 598260885 | CV3922196 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-20120A>C | not specified [RCV005279872] | uncertain significance | 12 | 21047199 | 21047199 | Human | | name |
| 598260890 | CV3922197 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23896T>A | not specified [RCV005279873] | uncertain significance | 12 | 21043423 | 21043423 | Human | | name |
| 598260896 | CV3922199 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-44373T>C | not specified [RCV005279874] | uncertain significance | 12 | 21022946 | 21022946 | Human | | name |
| 15199493 | CV702272 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866-23842A>G | not provided [RCV000957053] | benign | 12 | 21043477 | 21043477 | Human | | name |
| 126740212 | CV1021014 | deletion | NM_019844.4(SLCO1B3):c.1827_1830del (p.Gln610fs) | SLCO1B3-related disorder [RCV003899047] | pathogenic|uncertain significance | 12 | 20901429 | 20901432 | Human | | name , trait , alternate_id |
| 408379033 | CV3517726 | deletion | NM_019844.4(SLCO1B3):c.1666_1669del (p.Ile556fs) | SLCO1B3-related disorder [RCV004752507] | uncertain significance | 12 | 20883585 | 20883588 | Human | | name , trait , alternate_id |
| 14393891 | CV609825 | deletion | NM_019844.4(SLCO1B3):c.1794_1795del (p.Cys599fs) | SLCO1B3-related disorder [RCV003928256]|not provided [RCV000756665] | uncertain significance | 12 | 20901396 | 20901397 | Human | 1 | name , trait , alternate_id |
| 329374884 | CV2440102 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1866G>T (p.Gly622=) | not specified [RCV004260567] | uncertain significance | 12 | 21067319 | 21067319 | Human | | name |
| 38468317 | CV920848 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.2232T>C (p.Ser744=) | not provided [RCV001200580] | likely benign | 12 | 21090091 | 21090091 | Human | | name |
| 156256139 | CV2307779 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.2166T>G (p.Asn722Lys) | not specified [RCV004168464] | uncertain significance | 12 | 21090025 | 21090025 | Human | | name |
| 156263884 | CV2315052 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.2017G>T (p.Ala673Ser) | not specified [RCV004164961] | likely benign | 12 | 21076538 | 21076538 | Human | | name |
| 156278194 | CV2328422 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1915A>G (p.Ile639Val) | not specified [RCV004175524] | uncertain significance | 12 | 21067368 | 21067368 | Human | | name |
| 155975553 | CV2341568 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.2062G>A (p.Gly688Ser) | not specified [RCV004188955] | uncertain significance | 12 | 21089921 | 21089921 | Human | | name |
| 155927858 | CV2349824 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.2118T>A (p.Phe706Leu) | not specified [RCV004206248] | uncertain significance | 12 | 21089977 | 21089977 | Human | | name |
| 156213101 | CV2367031 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1982T>G (p.Met661Arg) | not specified [RCV004215482] | uncertain significance | 12 | 21076503 | 21076503 | Human | | name |
| 329360751 | CV2439668 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1924T>A (p.Ser642Thr) | not specified [RCV004255683] | likely benign | 12 | 21067377 | 21067377 | Human | | name |
| 401743926 | CV2726541 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1883T>C (p.Leu628Ser) | not specified [RCV004328722] | uncertain significance | 12 | 21067336 | 21067336 | Human | | name |
| 405771932 | CV3322503 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1976C>T (p.Thr659Met) | not specified [RCV004457134] | uncertain significance | 12 | 21076497 | 21076497 | Human | | name |
| 597725655 | CV3606970 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.2227C>G (p.Pro743Ala) | not specified [RCV004862460] | uncertain significance | 12 | 21090086 | 21090086 | Human | | name |
| 597777252 | CV3606973 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.2059T>A (p.Phe687Ile) | not specified [RCV004872992] | uncertain significance | 12 | 21089918 | 21089918 | Human | | name |
| 597777265 | CV3606977 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1877C>T (p.Pro626Leu) | not specified [RCV004872995] | uncertain significance | 12 | 21067330 | 21067330 | Human | | name |
| 598260858 | CV3922191 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.2181G>T (p.Met727Ile) | not specified [RCV005279867] | uncertain significance | 12 | 21090040 | 21090040 | Human | | name |
| 598260874 | CV3922194 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.2035T>A (p.Ser679Thr) | not specified [RCV005279870] | uncertain significance | 12 | 21076556 | 21076556 | Human | | name |
| 598237759 | CV3922198 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1942G>T (p.Val648Phe) | not specified [RCV005275717] | uncertain significance | 12 | 21076463 | 21076463 | Human | | name |
| 15168922 | CV702273 | single nucleotide variant | NM_001371097.1(SLCO1B3-SLCO1B7):c.1958G>A (p.Gly653Glu) | not provided [RCV000949356] | benign | 12 | 21076479 | 21076479 | Human | | name |