| 404988325 | CV2849483 | single nucleotide variant | NM_001040458.3(ERAP1):c.*17A>C | not specified [RCV003490340] | benign | 5 | 96776379 | 96776379 | Human | 2 | name |
| 404988235 | CV2849553 | single nucleotide variant | NM_001040458.3(ERAP1):c.*95G>A | not specified [RCV003490410] | benign | 5 | 96776301 | 96776301 | Human | | name |
| 150511862 | CV1242820 | single nucleotide variant | NM_001040458.3(ERAP1):c.*321T>C | not provided [RCV001661173] | benign | 5 | 96776075 | 96776075 | Human | | name |
| 404989436 | CV2849551 | single nucleotide variant | NM_001040458.3(ERAP1):c.*295A>C | not specified [RCV003490408] | benign | 5 | 96776101 | 96776101 | Human | | name |
| 404984011 | CV2849394 | single nucleotide variant | NM_001040458.3(ERAP1):c.1680-7A>C | not specified [RCV003489266] | benign | 5 | 96786556 | 96786556 | Human | 1 | name |
| 404987562 | CV2849451 | single nucleotide variant | NM_001040458.3(ERAP1):c.663+40A>G | not specified [RCV003490308] | benign | 5 | 96800822 | 96800822 | Human | | name |
| 404988093 | CV2849534 | single nucleotide variant | NM_001040458.3(ERAP1):c.524+40G>A | not specified [RCV003490391] | benign | 5 | 96803363 | 96803363 | Human | | name |
| 15192180 | CV730377 | single nucleotide variant | NM_001040458.3(ERAP1):c.2671-9C>T | not provided [RCV000888591] | likely benign | 5 | 96776560 | 96776560 | Human | | name |
| 15150249 | CV759409 | single nucleotide variant | NM_001040458.3(ERAP1):c.2100+9C>T | not provided [RCV000923438] | likely benign | 5 | 96783915 | 96783915 | Human | | name |
| 15138740 | CV775237 | single nucleotide variant | NM_001040458.3(ERAP1):c.1760-4C>G | not provided [RCV000943442] | likely benign | 5 | 96785975 | 96785975 | Human | | name |
| 15196829 | CV777513 | single nucleotide variant | NM_001040458.3(ERAP1):c.2447+9G>A | not provided [RCV000956295] | benign | 5 | 96781684 | 96781684 | Human | | name |
| 404984005 | CV2849393 | single nucleotide variant | NM_001040458.3(ERAP1):c.1760-40G>A | not specified [RCV003489265] | benign | 5 | 96786011 | 96786011 | Human | 1 | name |
| 404984417 | CV2849395 | single nucleotide variant | NM_001040458.3(ERAP1):c.1680-28T>G | not specified [RCV003489267] | benign | 5 | 96786577 | 96786577 | Human | | name |
| 404984029 | CV2849397 | single nucleotide variant | NM_001040458.3(ERAP1):c.1524+89G>A | not specified [RCV003489269] | benign | 5 | 96790207 | 96790207 | Human | | name |
| 404984035 | CV2849398 | single nucleotide variant | NM_001040458.3(ERAP1):c.1452+18T>C | not specified [RCV003489270] | benign | 5 | 96790494 | 96790494 | Human | | name |
| 404987628 | CV2849461 | single nucleotide variant | NM_001040458.3(ERAP1):c.2448-38C>T | not specified [RCV003490318] | benign | 5 | 96781236 | 96781236 | Human | | name |
| 404987842 | CV2849496 | single nucleotide variant | NM_001040458.3(ERAP1):c.1943+86T>C | not specified [RCV003490353] | benign | 5 | 96785702 | 96785702 | Human | | name |
| 404988242 | CV2849554 | single nucleotide variant | NM_001040458.3(ERAP1):c.2671-29T>A | not specified [RCV003490411] | benign | 5 | 96776580 | 96776580 | Human | | name |
| 404988250 | CV2849555 | single nucleotide variant | NM_001040458.3(ERAP1):c.2671-40G>A | not specified [RCV003490412] | benign | 5 | 96776591 | 96776591 | Human | | name |
| 404989780 | CV2849573 | single nucleotide variant | NM_001040458.3(ERAP1):c.1525-59C>G | not specified [RCV003490430] | benign | 5 | 96788744 | 96788744 | Human | | name |
| 404989786 | CV2849574 | single nucleotide variant | NM_001040458.3(ERAP1):c.1189-10A>G | not specified [RCV003490431] | benign | 5 | 96792202 | 96792202 | Human | | name |
| 404988407 | CV2849577 | single nucleotide variant | NM_001040458.3(ERAP1):c.2447+97C>T | not specified [RCV003490434] | benign | 5 | 96781596 | 96781596 | Human | | name |
| 404988365 | CV2849489 | duplication | NM_001040458.3(ERAP1):c.1943+121dup | not specified [RCV003490346] | benign | 5 | 96785666 | 96785667 | Human | | name |
| 404987893 | CV2849506 | duplication | NM_001040458.3(ERAP1):c.*157_*172dup | not specified [RCV003490363] | benign | 5 | 96776223 | 96776224 | Human | | name |
| 404989411 | CV2849550 | insertion | NM_001040458.3(ERAP1):c.*298_*299insCA | not specified [RCV003490407] | benign | 5 | 96776097 | 96776098 | Human | | name |
| 15176558 | CV735290 | single nucleotide variant | NM_001040458.3(ERAP1):c.54C>T (p.Ser18=) | not provided [RCV000906456] | benign | 5 | 96803873 | 96803873 | Human | | name |
| 15157332 | CV699221 | single nucleotide variant | NM_001040458.3(ERAP1):c.204T>C (p.His68=) | not provided [RCV000946865] | benign | 5 | 96803723 | 96803723 | Human | | name |
| 15181521 | CV710078 | single nucleotide variant | NM_001040458.3(ERAP1):c.171C>T (p.Tyr57=) | not provided [RCV000974411] | benign|likely benign | 5 | 96803756 | 96803756 | Human | | name |
| 15150109 | CV749703 | single nucleotide variant | NM_001040458.3(ERAP1):c.216C>T (p.Thr72=) | not provided [RCV000923412] | likely benign | 5 | 96803711 | 96803711 | Human | | name |
| 401944746 | CV2840535 | single nucleotide variant | NM_001040458.3(ERAP1):c.468G>A (p.Ser156=) | not provided [RCV003457437] | likely benign | 5 | 96803459 | 96803459 | Human | | name |
| 404984190 | CV2849346 | duplication | NM_001040458.3(ERAP1):c.2100+46_2100+47dup | not specified [RCV003489218] | benign | 5 | 96783876 | 96783877 | Human | | name |
| 404987425 | CV2849430 | duplication | NM_001040458.3(ERAP1):c.2100+47_2100+48dup | not specified [RCV003490287] | benign | 5 | 96783875 | 96783876 | Human | | name |
| 404987804 | CV2849490 | single nucleotide variant | NM_001040458.3(ERAP1):c.35C>T (p.Thr12Ile) | not specified [RCV003490347] | benign | 5 | 96803892 | 96803892 | Human | | name |
| 407479532 | CV3441922 | single nucleotide variant | NM_001040458.3(ERAP1):c.91T>C (p.Trp31Arg) | not specified [RCV004617798] | uncertain significance | 5 | 96803836 | 96803836 | Human | | name |
| 15119267 | CV749702 | single nucleotide variant | NM_001040458.3(ERAP1):c.357C>T (p.Pro119=) | not provided [RCV000918117] | benign | 5 | 96803570 | 96803570 | Human | | name |
| 15140645 | CV765398 | single nucleotide variant | NM_001040458.3(ERAP1):c.423C>T (p.Val141=) | not provided [RCV000943754] | likely benign | 5 | 96803504 | 96803504 | Human | | name |
| 150465402 | CV1277234 | single nucleotide variant | NM_001040458.3(ERAP1):c.1068T>C (p.Ala356=) | not provided [RCV001710528]|not specified [RCV003487738] | benign | 5 | 96793809 | 96793809 | Human | | name |
| 155984740 | CV2247790 | single nucleotide variant | NM_001040458.3(ERAP1):c.218C>A (p.Thr73Lys) | not specified [RCV004121257] | uncertain significance | 5 | 96803709 | 96803709 | Human | | name |
| 156359167 | CV2328155 | single nucleotide variant | NM_001040458.3(ERAP1):c.218C>T (p.Thr73Met) | not specified [RCV004173256] | uncertain significance | 5 | 96803709 | 96803709 | Human | | name |
| 401769412 | CV2689713 | single nucleotide variant | NM_001040458.3(ERAP1):c.122G>A (p.Arg41His) | not specified [RCV004297630] | uncertain significance | 5 | 96803805 | 96803805 | Human | | name |
| 401915270 | CV2827894 | single nucleotide variant | NM_001040458.3(ERAP1):c.2496T>C (p.Phe832=) | not provided [RCV003428561] | benign | 5 | 96781150 | 96781150 | Human | | name |
| 404984042 | CV2849399 | single nucleotide variant | NM_001040458.3(ERAP1):c.1359T>C (p.Ser453=) | not specified [RCV003489271] | benign | 5 | 96790605 | 96790605 | Human | | name |
| 404984468 | CV2849406 | single nucleotide variant | NM_001040458.3(ERAP1):c.1911G>A (p.Ala637=) | not specified [RCV003489278] | benign | 5 | 96785820 | 96785820 | Human | | name |
| 404987717 | CV2849474 | single nucleotide variant | NM_001040458.3(ERAP1):c.1251C>T (p.His417=) | not specified [RCV003490331] | benign | 5 | 96792130 | 96792130 | Human | | name |
| 404988257 | CV2849556 | single nucleotide variant | NM_001040458.3(ERAP1):c.2542C>T (p.Leu848=) | not specified [RCV003490413] | benign | 5 | 96781104 | 96781104 | Human | | name |
| 598129775 | CV3887196 | single nucleotide variant | NM_001040458.3(ERAP1):c.1020T>C (p.Ser340=) | not provided [RCV005245256] | likely benign | 5 | 96793857 | 96793857 | Human | | name |
| 15159502 | CV721604 | single nucleotide variant | NM_001040458.3(ERAP1):c.2787C>T (p.Ile929=) | not provided [RCV000881208] | benign | 5 | 96776435 | 96776435 | Human | | name |
| 15183975 | CV721605 | single nucleotide variant | NM_001040458.3(ERAP1):c.2367T>C (p.Tyr789=) | not provided [RCV000886343] | benign | 5 | 96781773 | 96781773 | Human | | name |
| 15108026 | CV721606 | single nucleotide variant | NM_001040458.3(ERAP1):c.2229C>T (p.Cys743=) | not provided [RCV000893592] | benign | 5 | 96783107 | 96783107 | Human | | name |
| 15190900 | CV721607 | single nucleotide variant | NM_001040458.3(ERAP1):c.1938C>T (p.Leu646=) | not provided [RCV000888229] | benign | 5 | 96785793 | 96785793 | Human | | name |
| 15175224 | CV721608 | single nucleotide variant | NM_001040458.3(ERAP1):c.1617G>C (p.Gly539=) | not provided [RCV000884314] | benign | 5 | 96788593 | 96788593 | Human | | name |
| 15192271 | CV735289 | single nucleotide variant | NM_001040458.3(ERAP1):c.1218C>T (p.Asp406=) | not provided [RCV000910489] | benign | 5 | 96792163 | 96792163 | Human | | name |
| 15109558 | CV749700 | single nucleotide variant | NM_001040458.3(ERAP1):c.2430T>C (p.Asn810=) | not provided [RCV000916361] | likely benign | 5 | 96781710 | 96781710 | Human | | name |
| 15194438 | CV765396 | single nucleotide variant | NM_001040458.3(ERAP1):c.2799G>A (p.Leu933=) | not provided [RCV000933645] | likely benign | 5 | 96776423 | 96776423 | Human | | name |
| 15115415 | CV765397 | single nucleotide variant | NM_001040458.3(ERAP1):c.1830G>T (p.Val610=) | not provided [RCV000939482] | likely benign | 5 | 96785901 | 96785901 | Human | | name |
| 10395425 | CV204106 | single nucleotide variant | NM_001040458.3(ERAP1):c.955A>G (p.Met319Val) | Long QT syndrome [RCV000190209] | likely benign | 5 | 96793922 | 96793922 | Human | 2 | name |
| 156187103 | CV2236321 | single nucleotide variant | NM_001040458.3(ERAP1):c.463C>T (p.Leu155Phe) | not specified [RCV004108015] | uncertain significance | 5 | 96803464 | 96803464 | Human | | name |
| 156053161 | CV2269476 | single nucleotide variant | NM_001040458.3(ERAP1):c.532G>T (p.Ala178Ser) | not specified [RCV004124589] | uncertain significance | 5 | 96800993 | 96800993 | Human | | name |
| 155931943 | CV2362681 | single nucleotide variant | NM_001040458.3(ERAP1):c.805G>C (p.Val269Leu) | not specified [RCV004215327] | uncertain significance | 5 | 96795156 | 96795156 | Human | | name |
| 155970258 | CV2392183 | single nucleotide variant | NM_001040458.3(ERAP1):c.605G>A (p.Ser202Asn) | not specified [RCV004242531] | uncertain significance | 5 | 96800920 | 96800920 | Human | | name |
| 404987850 | CV2849497 | single nucleotide variant | NM_001040458.3(ERAP1):c.828A>G (p.Ile276Met) | not specified [RCV003490354] | benign | 5 | 96795133 | 96795133 | Human | | name |
| 404988438 | CV2849581 | single nucleotide variant | NM_001040458.3(ERAP1):c.380G>C (p.Arg127Pro) | not specified [RCV003490438] | benign | 5 | 96803547 | 96803547 | Human | | name |
| 405740184 | CV3249379 | single nucleotide variant | NM_001040458.3(ERAP1):c.503G>A (p.Arg168Lys) | not specified [RCV004380458] | uncertain significance | 5 | 96803424 | 96803424 | Human | | name |
| 405740192 | CV3249380 | single nucleotide variant | NM_001040458.3(ERAP1):c.538A>G (p.Thr180Ala) | not specified [RCV004380459] | uncertain significance | 5 | 96800987 | 96800987 | Human | | name |
| 405740196 | CV3249381 | single nucleotide variant | NM_001040458.3(ERAP1):c.560C>G (p.Ala187Gly) | not specified [RCV004380460] | uncertain significance | 5 | 96800965 | 96800965 | Human | | name |
| 405740202 | CV3249382 | single nucleotide variant | NM_001040458.3(ERAP1):c.658C>A (p.Pro220Thr) | not specified [RCV004380461] | uncertain significance | 5 | 96800867 | 96800867 | Human | | name |
| 405740210 | CV3249383 | single nucleotide variant | NM_001040458.3(ERAP1):c.818C>T (p.Pro273Leu) | not specified [RCV004380462] | uncertain significance | 5 | 96795143 | 96795143 | Human | | name |
| 405740217 | CV3249384 | single nucleotide variant | NM_001040458.3(ERAP1):c.949G>A (p.Gly317Ser) | not specified [RCV004380463] | uncertain significance | 5 | 96793928 | 96793928 | Human | | name |
| 407479540 | CV3441924 | single nucleotide variant | NM_001040458.3(ERAP1):c.640C>A (p.Leu214Ile) | not specified [RCV004617800] | uncertain significance | 5 | 96800885 | 96800885 | Human | | name |
| 597748227 | CV3671406 | single nucleotide variant | NM_001040458.3(ERAP1):c.793G>A (p.Val265Ile) | not specified [RCV004923056] | uncertain significance | 5 | 96797180 | 96797180 | Human | | name |
| 597804113 | CV3671407 | single nucleotide variant | NM_001040458.3(ERAP1):c.632C>G (p.Pro211Arg) | not specified [RCV004907531] | uncertain significance | 5 | 96800893 | 96800893 | Human | | name |
| 597804119 | CV3671412 | single nucleotide variant | NM_001040458.3(ERAP1):c.452A>G (p.Tyr151Cys) | not specified [RCV004907534] | uncertain significance | 5 | 96803475 | 96803475 | Human | | name |
| 597804121 | CV3671415 | single nucleotide variant | NM_001040458.3(ERAP1):c.682G>T (p.Ala228Ser) | not specified [RCV004907535] | uncertain significance | 5 | 96797291 | 96797291 | Human | | name |
| 597804124 | CV3671417 | single nucleotide variant | NM_001040458.3(ERAP1):c.416T>C (p.Leu139Pro) | not specified [RCV004907537] | uncertain significance | 5 | 96803511 | 96803511 | Human | | name |
| 598169965 | CV3961633 | single nucleotide variant | NM_001040458.3(ERAP1):c.431C>T (p.Pro144Leu) | not specified [RCV005330589] | likely benign | 5 | 96803496 | 96803496 | Human | | name |
| 15104116 | CV749701 | single nucleotide variant | NM_001040458.3(ERAP1):c.551C>G (p.Pro184Arg) | not provided [RCV000915290] | benign | 5 | 96800974 | 96800974 | Human | | name |
| 150471303 | CV1270049 | single nucleotide variant | NM_001040458.3(ERAP1):c.1037G>A (p.Gly346Asp) | not provided [RCV001695337] | benign | 5 | 96793840 | 96793840 | Human | | name |
| 156387482 | CV2221520 | single nucleotide variant | NM_001040458.3(ERAP1):c.1330A>G (p.Ile444Val) | not specified [RCV004096790] | uncertain significance | 5 | 96790634 | 96790634 | Human | | name |
| 155970796 | CV2241570 | single nucleotide variant | NM_001040458.3(ERAP1):c.1469G>C (p.Gly490Ala) | not specified [RCV004104461] | uncertain significance | 5 | 96790351 | 96790351 | Human | | name |
| 156036083 | CV2243470 | single nucleotide variant | NM_001040458.3(ERAP1):c.1636C>G (p.Gln546Glu) | not specified [RCV004112434] | uncertain significance | 5 | 96788574 | 96788574 | Human | | name |
| 156317933 | CV2251113 | single nucleotide variant | NM_001040458.3(ERAP1):c.2659C>T (p.Arg887Trp) | not specified [RCV004123653] | likely benign | 5 | 96780434 | 96780434 | Human | | name |
| 156258288 | CV2277729 | single nucleotide variant | NM_001040458.3(ERAP1):c.2353C>T (p.Leu785Phe) | not specified [RCV004147170] | uncertain significance | 5 | 96781787 | 96781787 | Human | | name |
| 156172260 | CV2286844 | single nucleotide variant | NM_001040458.3(ERAP1):c.2332A>G (p.Ser778Gly) | not specified [RCV004142646] | uncertain significance | 5 | 96781808 | 96781808 | Human | | name |
| 155903908 | CV2298705 | single nucleotide variant | NM_001040458.3(ERAP1):c.2362A>G (p.Lys788Glu) | not specified [RCV004156279] | uncertain significance | 5 | 96781778 | 96781778 | Human | | name |
| 156068186 | CV2317971 | single nucleotide variant | NM_001040458.3(ERAP1):c.2209G>A (p.Val737Met) | not specified [RCV004177091] | uncertain significance | 5 | 96783127 | 96783127 | Human | | name |
| 156293474 | CV2336481 | single nucleotide variant | NM_001040458.3(ERAP1):c.1946T>C (p.Ile649Thr) | not specified [RCV004194693] | uncertain significance | 5 | 96784078 | 96784078 | Human | | name |
| 156067966 | CV2345893 | single nucleotide variant | NM_001040458.3(ERAP1):c.1839G>T (p.Glu613Asp) | not specified [RCV004198934] | uncertain significance | 5 | 96785892 | 96785892 | Human | | name |
| 156062340 | CV2353769 | single nucleotide variant | NM_001040458.3(ERAP1):c.2296G>A (p.Asp766Asn) | not specified [RCV004201777] | uncertain significance | 5 | 96781844 | 96781844 | Human | | name |
| 155938013 | CV2364954 | single nucleotide variant | NM_001040458.3(ERAP1):c.2012T>A (p.Met671Lys) | not specified [RCV004222247] | uncertain significance | 5 | 96784012 | 96784012 | Human | | name |
| 155927868 | CV2365998 | single nucleotide variant | NM_001040458.3(ERAP1):c.1296G>T (p.Met432Ile) | not specified [RCV004207599] | uncertain significance | 5 | 96792085 | 96792085 | Human | | name |
| 155991693 | CV2379227 | single nucleotide variant | NM_001040458.3(ERAP1):c.2689T>C (p.Ser897Pro) | not specified [RCV004223707] | uncertain significance | 5 | 96776533 | 96776533 | Human | | name |
| 156190686 | CV2391157 | single nucleotide variant | NM_001040458.3(ERAP1):c.1210T>C (p.Cys404Arg) | not specified [RCV004237181] | uncertain significance | 5 | 96792171 | 96792171 | Human | | name |
| 329360837 | CV2439815 | single nucleotide variant | NM_001040458.3(ERAP1):c.2471G>C (p.Gly824Ala) | not specified [RCV004255815] | uncertain significance | 5 | 96781175 | 96781175 | Human | | name |
| 329377543 | CV2462577 | single nucleotide variant | NM_001040458.3(ERAP1):c.1285A>G (p.Ile429Val) | not specified [RCV004278527] | uncertain significance | 5 | 96792096 | 96792096 | Human | | name |
| 401722200 | CV2680860 | single nucleotide variant | NM_001040458.3(ERAP1):c.2551C>A (p.Gln851Lys) | not specified [RCV004293506] | likely benign | 5 | 96781095 | 96781095 | Human | | name |
| 401769664 | CV2689879 | single nucleotide variant | NM_001040458.3(ERAP1):c.1522T>A (p.Ser508Thr) | not specified [RCV004297776] | uncertain significance | 5 | 96790298 | 96790298 | Human | | name |
| 401773556 | CV2695283 | single nucleotide variant | NM_001040458.3(ERAP1):c.2677G>A (p.Gly893Arg) | not specified [RCV004303411] | uncertain significance | 5 | 96776545 | 96776545 | Human | | name |
| 401864782 | CV2778041 | single nucleotide variant | NM_001040458.3(ERAP1):c.2640T>G (p.Asn880Lys) | not specified [RCV004347995] | uncertain significance | 5 | 96780453 | 96780453 | Human | | name |
| 401891825 | CV2780824 | single nucleotide variant | NM_001040458.3(ERAP1):c.1714A>G (p.Ser572Gly) | not specified [RCV004352142] | uncertain significance | 5 | 96786515 | 96786515 | Human | | name |
| 401917763 | CV2827895 | single nucleotide variant | NM_001040458.3(ERAP1):c.1939G>A (p.Val647Ile) | not provided [RCV003429708] | benign | 5 | 96785792 | 96785792 | Human | | name |
| 401917765 | CV2827896 | single nucleotide variant | NM_001040458.3(ERAP1):c.1852G>T (p.Asp618Tyr) | not provided [RCV003429709]|not specified [RCV004621795] | likely benign|uncertain significance | 5 | 96785879 | 96785879 | Human | | name |
| 404984022 | CV2849396 | single nucleotide variant | NM_001040458.3(ERAP1):c.1583A>G (p.Lys528Arg) | not specified [RCV003489268] | benign | 5 | 96788627 | 96788627 | Human | | name |
| 404988078 | CV2849532 | single nucleotide variant | NM_001040458.3(ERAP1):c.1723G>A (p.Asp575Asn) | not specified [RCV003490389] | benign | 5 | 96786506 | 96786506 | Human | | name |
| 404988086 | CV2849533 | single nucleotide variant | NM_001040458.3(ERAP1):c.1045A>G (p.Met349Val) | not specified [RCV003490390] | benign | 5 | 96793832 | 96793832 | Human | | name |
| 404988150 | CV2849542 | single nucleotide variant | NM_001040458.3(ERAP1):c.2174G>A (p.Arg725Gln) | not specified [RCV003490399] | benign | 5 | 96783162 | 96783162 | Human | 6 | name |
| 404988361 | CV2849569 | single nucleotide variant | NM_001040458.3(ERAP1):c.2188C>G (p.Gln730Glu) | not specified [RCV003490426] | benign | 5 | 96783148 | 96783148 | Human | 5 | name |
| 405740108 | CV3249369 | single nucleotide variant | NM_001040458.3(ERAP1):c.1162A>G (p.Ser388Gly) | not specified [RCV004380448] | uncertain significance | 5 | 96793426 | 96793426 | Human | | name |
| 405740118 | CV3249370 | single nucleotide variant | NM_001040458.3(ERAP1):c.1216G>A (p.Asp406Asn) | not specified [RCV004380449] | likely benign | 5 | 96792165 | 96792165 | Human | | name |
| 405740124 | CV3249371 | single nucleotide variant | NM_001040458.3(ERAP1):c.1219G>A (p.Ala407Thr) | not specified [RCV004380450] | uncertain significance | 5 | 96792162 | 96792162 | Human | | name |
| 405740132 | CV3249372 | single nucleotide variant | NM_001040458.3(ERAP1):c.1339A>G (p.Met447Val) | not specified [RCV004380451] | uncertain significance | 5 | 96790625 | 96790625 | Human | | name |
| 405740908 | CV3249373 | single nucleotide variant | NM_001040458.3(ERAP1):c.1482G>A (p.Met494Ile) | not specified [RCV004380452] | uncertain significance | 5 | 96790338 | 96790338 | Human | | name |
| 405740143 | CV3249374 | single nucleotide variant | NM_001040458.3(ERAP1):c.1666G>A (p.Ala556Thr) | not specified [RCV004380453] | likely benign | 5 | 96788544 | 96788544 | Human | | name |
| 405740150 | CV3249375 | single nucleotide variant | NM_001040458.3(ERAP1):c.1691A>G (p.His564Arg) | not specified [RCV004380454] | uncertain significance | 5 | 96786538 | 96786538 | Human | | name |
| 405740159 | CV3249376 | single nucleotide variant | NM_001040458.3(ERAP1):c.1736G>A (p.Arg579Gln) | not specified [RCV004380455] | uncertain significance | 5 | 96786493 | 96786493 | Human | | name |
| 405740166 | CV3249377 | single nucleotide variant | NM_001040458.3(ERAP1):c.2155G>A (p.Glu719Lys) | not specified [RCV004380456] | uncertain significance | 5 | 96783181 | 96783181 | Human | | name |
| 405740175 | CV3249378 | single nucleotide variant | NM_001040458.3(ERAP1):c.2669A>C (p.Glu890Ala) | not specified [RCV004380457] | uncertain significance | 5 | 96780424 | 96780424 | Human | | name |
| 407479507 | CV3441916 | single nucleotide variant | NM_001040458.3(ERAP1):c.2203G>A (p.Ala735Thr) | not specified [RCV004617792] | uncertain significance | 5 | 96783133 | 96783133 | Human | | name |
| 407479511 | CV3441917 | single nucleotide variant | NM_001040458.3(ERAP1):c.1837G>C (p.Glu613Gln) | not specified [RCV004617793] | uncertain significance | 5 | 96785894 | 96785894 | Human | | name |
| 407479515 | CV3441918 | single nucleotide variant | NM_001040458.3(ERAP1):c.2579T>C (p.Leu860Pro) | not specified [RCV004617794] | uncertain significance | 5 | 96781067 | 96781067 | Human | | name |
| 407479519 | CV3441919 | single nucleotide variant | NM_001040458.3(ERAP1):c.2810A>C (p.Lys937Thr) | not specified [RCV004617795] | uncertain significance | 5 | 96776412 | 96776412 | Human | | name |
| 407479523 | CV3441920 | single nucleotide variant | NM_001040458.3(ERAP1):c.2288T>C (p.Leu763Pro) | not specified [RCV004617796] | uncertain significance | 5 | 96781852 | 96781852 | Human | | name |
| 407479527 | CV3441921 | single nucleotide variant | NM_001040458.3(ERAP1):c.1694T>C (p.Val565Ala) | not specified [RCV004617797] | uncertain significance | 5 | 96786535 | 96786535 | Human | | name |
| 407479544 | CV3441925 | single nucleotide variant | NM_001040458.3(ERAP1):c.1001T>C (p.Phe334Ser) | not specified [RCV004617801] | uncertain significance | 5 | 96793876 | 96793876 | Human | | name |
| 407479548 | CV3441926 | single nucleotide variant | NM_001040458.3(ERAP1):c.2803A>G (p.Ser935Gly) | not specified [RCV004617802] | uncertain significance | 5 | 96776419 | 96776419 | Human | | name |
| 597804111 | CV3671405 | single nucleotide variant | NM_001040458.3(ERAP1):c.2401A>G (p.Ile801Val) | not specified [RCV004907530] | uncertain significance | 5 | 96781739 | 96781739 | Human | | name |
| 597804115 | CV3671408 | single nucleotide variant | NM_001040458.3(ERAP1):c.1366G>A (p.Ala456Thr) | not specified [RCV004907532] | uncertain significance | 5 | 96790598 | 96790598 | Human | | name |
| 597804117 | CV3671409 | single nucleotide variant | NM_001040458.3(ERAP1):c.2596C>G (p.Leu866Val) | not specified [RCV004907533] | uncertain significance | 5 | 96780497 | 96780497 | Human | | name |
| 597748232 | CV3671410 | single nucleotide variant | NM_001040458.3(ERAP1):c.1372A>G (p.Lys458Glu) | not specified [RCV004923057] | uncertain significance | 5 | 96790592 | 96790592 | Human | | name |
| 597748236 | CV3671411 | single nucleotide variant | NM_001040458.3(ERAP1):c.1180C>A (p.Leu394Met) | not specified [RCV004923058] | uncertain significance | 5 | 96793408 | 96793408 | Human | | name |
| 597748244 | CV3671414 | single nucleotide variant | NM_001040458.3(ERAP1):c.2035G>A (p.Glu679Lys) | not specified [RCV004923060] | uncertain significance | 5 | 96783989 | 96783989 | Human | | name |
| 597804122 | CV3671416 | single nucleotide variant | NM_001040458.3(ERAP1):c.1771C>T (p.Leu591Phe) | not specified [RCV004907536] | uncertain significance | 5 | 96785960 | 96785960 | Human | | name |
| 597804126 | CV3671418 | single nucleotide variant | NM_001040458.3(ERAP1):c.2237G>A (p.Arg746Lys) | not specified [RCV004907538] | uncertain significance | 5 | 96783099 | 96783099 | Human | | name |
| 598169959 | CV3961631 | single nucleotide variant | NM_001040458.3(ERAP1):c.2534G>C (p.Gly845Ala) | not specified [RCV005330587] | uncertain significance | 5 | 96781112 | 96781112 | Human | | name |
| 598169968 | CV3961634 | single nucleotide variant | NM_001040458.3(ERAP1):c.1646A>G (p.Tyr549Cys) | not specified [RCV005330590] | uncertain significance | 5 | 96788564 | 96788564 | Human | | name |
| 15099813 | CV699220 | single nucleotide variant | NM_001040458.3(ERAP1):c.2744T>C (p.Ile915Thr) | not provided [RCV000958818] | likely benign | 5 | 96776478 | 96776478 | Human | | name |
| 15137856 | CV710076 | single nucleotide variant | NM_001040458.3(ERAP1):c.1763T>G (p.Val588Gly) | not provided [RCV000965690] | benign | 5 | 96785968 | 96785968 | Human | | name |
| 15176025 | CV710077 | single nucleotide variant | NM_001040458.3(ERAP1):c.1540G>A (p.Gly514Arg) | not provided [RCV000973089] | likely benign | 5 | 96788670 | 96788670 | Human | | name |
| 598125363 | CV3881563 | deletion | NM_001040458.3(ERAP1):c.1861_1864del (p.Thr621fs) | not specified [RCV005232469] | uncertain significance | 5 | 96785867 | 96785870 | Human | | name |
| 15193564 | CV730376 | single nucleotide variant | NM_001750.7(CAST):c.1933-3C>T | ERAP1-related disorder [RCV003920728]|not provided [RCV000888982] | benign | 5 | 96765218 | 96765218 | Human | | trait , alternate_id |