| 156181878 | CV2338157 | single nucleotide variant | NM_001161346.2(CHFR):c.23A>G (p.Lys8Arg) | not specified [RCV004184187] | uncertain significance | 12 | 132887306 | 132887306 | Human | | name |
| 156111477 | CV2261754 | single nucleotide variant | NM_001161346.2(CHFR):c.42G>C (p.Gln14His) | not specified [RCV004126044] | uncertain significance | 12 | 132887287 | 132887287 | Human | | name |
| 329376958 | CV2455142 | single nucleotide variant | NM_001161346.2(CHFR):c.91G>A (p.Val31Ile) | not specified [RCV004272386] | uncertain significance | 12 | 132887238 | 132887238 | Human | | name |
| 401742018 | CV2676875 | single nucleotide variant | NM_001161346.2(CHFR):c.31C>T (p.Pro11Ser) | not specified [RCV004291040] | uncertain significance | 12 | 132887298 | 132887298 | Human | | name |
| 405661462 | CV3300877 | single nucleotide variant | NM_001161346.2(CHFR):c.29C>T (p.Ser10Leu) | not specified [RCV004439180] | uncertain significance | 12 | 132887300 | 132887300 | Human | | name |
| 407455407 | CV3422676 | single nucleotide variant | NM_001161346.2(CHFR):c.62G>A (p.Arg21His) | not specified [RCV004610304] | uncertain significance | 12 | 132887267 | 132887267 | Human | | name |
| 597769156 | CV3656544 | single nucleotide variant | NM_001161346.2(CHFR):c.37C>T (p.Pro13Ser) | not specified [RCV004896660] | uncertain significance | 12 | 132887292 | 132887292 | Human | | name |
| 156198836 | CV2331164 | single nucleotide variant | NM_001161346.2(CHFR):c.278A>G (p.Gln93Arg) | not specified [RCV004181770] | uncertain significance | 12 | 132872350 | 132872350 | Human | | name |
| 329376072 | CV2467522 | single nucleotide variant | NM_001161346.2(CHFR):c.209G>A (p.Gly70Asp) | not specified [RCV004287123] | uncertain significance | 12 | 132877579 | 132877579 | Human | | name |
| 405661444 | CV3300871 | single nucleotide variant | NM_001161346.2(CHFR):c.124C>T (p.Arg42Trp) | not specified [RCV004439174] | uncertain significance | 12 | 132887205 | 132887205 | Human | | name |
| 405661447 | CV3300872 | single nucleotide variant | NM_001161346.2(CHFR):c.137G>T (p.Cys46Phe) | not specified [RCV004439175] | uncertain significance | 12 | 132877651 | 132877651 | Human | | name |
| 405661453 | CV3300874 | single nucleotide variant | NM_001161346.2(CHFR):c.157A>G (p.Asn53Asp) | not specified [RCV004439177] | uncertain significance | 12 | 132877631 | 132877631 | Human | | name |
| 407455421 | CV3422681 | single nucleotide variant | NM_001161346.2(CHFR):c.169T>C (p.Ser57Pro) | not specified [RCV004610309] | uncertain significance | 12 | 132877619 | 132877619 | Human | | name |
| 597769166 | CV3656546 | single nucleotide variant | NM_001161346.2(CHFR):c.114G>T (p.Trp38Cys) | not specified [RCV004896662] | uncertain significance | 12 | 132887215 | 132887215 | Human | | name |
| 15138593 | CV738568 | single nucleotide variant | NM_001161346.2(CHFR):c.1497G>A (p.Ala499=) | not provided [RCV000899009] | benign | 12 | 132848720 | 132848720 | Human | | name |
| 15187496 | CV738569 | single nucleotide variant | NM_001161346.2(CHFR):c.1416G>A (p.Leu472=) | not provided [RCV000909105] | benign | 12 | 132851694 | 132851694 | Human | | name |
| 155927505 | CV2218398 | single nucleotide variant | NM_001161346.2(CHFR):c.796C>G (p.Arg266Gly) | not specified [RCV004090693] | uncertain significance | 12 | 132859183 | 132859183 | Human | | name |
| 156070645 | CV2293025 | single nucleotide variant | NM_001161346.2(CHFR):c.838G>T (p.Ala280Ser) | not specified [RCV004148497] | uncertain significance | 12 | 132859141 | 132859141 | Human | | name |
| 156094708 | CV2310033 | single nucleotide variant | NM_001161346.2(CHFR):c.866C>T (p.Thr289Met) | not specified [RCV004163169] | uncertain significance | 12 | 132859113 | 132859113 | Human | | name |
| 155907378 | CV2354417 | single nucleotide variant | NM_001161346.2(CHFR):c.814G>A (p.Val272Ile) | not specified [RCV004200366] | uncertain significance | 12 | 132859165 | 132859165 | Human | | name |
| 156099077 | CV2367339 | single nucleotide variant | NM_001161346.2(CHFR):c.335C>G (p.Pro112Arg) | not specified [RCV004209246] | uncertain significance | 12 | 132872293 | 132872293 | Human | | name |
| 329400308 | CV2437623 | single nucleotide variant | NM_001161346.2(CHFR):c.589G>T (p.Gly197Trp) | not specified [RCV004260941] | uncertain significance | 12 | 132861629 | 132861629 | Human | | name |
| 401765282 | CV2712602 | single nucleotide variant | NM_001161346.2(CHFR):c.820G>A (p.Glu274Lys) | not specified [RCV004307930] | uncertain significance | 12 | 132859159 | 132859159 | Human | | name |
| 401863002 | CV2755772 | single nucleotide variant | NM_001161346.2(CHFR):c.753T>G (p.Asp251Glu) | not specified [RCV004342148] | uncertain significance | 12 | 132859226 | 132859226 | Human | | name |
| 405661465 | CV3300878 | single nucleotide variant | NM_001161346.2(CHFR):c.692C>T (p.Ser231Leu) | not specified [RCV004439181] | uncertain significance | 12 | 132861526 | 132861526 | Human | | name |
| 405661468 | CV3300879 | single nucleotide variant | NM_001161346.2(CHFR):c.730G>A (p.Val244Met) | not specified [RCV004439182] | uncertain significance | 12 | 132861488 | 132861488 | Human | | name |
| 405661471 | CV3300880 | single nucleotide variant | NM_001161346.2(CHFR):c.797G>A (p.Arg266His) | not specified [RCV004439183] | uncertain significance | 12 | 132859182 | 132859182 | Human | | name |
| 405661473 | CV3300881 | single nucleotide variant | NM_001161346.2(CHFR):c.953C>T (p.Ser318Leu) | not specified [RCV004439184] | uncertain significance | 12 | 132857518 | 132857518 | Human | | name |
| 407455414 | CV3422678 | single nucleotide variant | NM_001161346.2(CHFR):c.836C>T (p.Ala279Val) | not specified [RCV004610306] | uncertain significance | 12 | 132859143 | 132859143 | Human | | name |
| 407455416 | CV3422679 | single nucleotide variant | NM_001161346.2(CHFR):c.733A>G (p.Lys245Glu) | not specified [RCV004610307] | uncertain significance | 12 | 132861485 | 132861485 | Human | | name |
| 407455419 | CV3422680 | single nucleotide variant | NM_001161346.2(CHFR):c.991C>T (p.Arg331Cys) | not specified [RCV004610308] | uncertain significance | 12 | 132857480 | 132857480 | Human | | name |
| 597769148 | CV3656543 | single nucleotide variant | NM_001161346.2(CHFR):c.830G>A (p.Arg277Lys) | not specified [RCV004896659] | uncertain significance | 12 | 132859149 | 132859149 | Human | | name |
| 597769171 | CV3656547 | single nucleotide variant | NM_001161346.2(CHFR):c.741A>T (p.Lys247Asn) | not specified [RCV004896663] | uncertain significance | 12 | 132861477 | 132861477 | Human | | name |
| 597769176 | CV3656548 | single nucleotide variant | NM_001161346.2(CHFR):c.335C>T (p.Pro112Leu) | not specified [RCV004896664] | uncertain significance | 12 | 132872293 | 132872293 | Human | | name |
| 597769181 | CV3656549 | single nucleotide variant | NM_001161346.2(CHFR):c.651C>G (p.Ser217Arg) | not specified [RCV004896665] | uncertain significance | 12 | 132861567 | 132861567 | Human | | name |
| 597769185 | CV3656550 | single nucleotide variant | NM_001161346.2(CHFR):c.877A>G (p.Ile293Val) | not specified [RCV004896666] | uncertain significance | 12 | 132859102 | 132859102 | Human | | name |
| 597769198 | CV3656552 | single nucleotide variant | NM_001161346.2(CHFR):c.668C>G (p.Pro223Arg) | not specified [RCV004896668] | uncertain significance | 12 | 132861550 | 132861550 | Human | | name |
| 598214199 | CV3951528 | single nucleotide variant | NM_001161346.2(CHFR):c.748G>C (p.Gly250Arg) | not specified [RCV005316519] | uncertain significance | 12 | 132861470 | 132861470 | Human | | name |
| 598214204 | CV3951529 | single nucleotide variant | NM_001161346.2(CHFR):c.967C>T (p.Arg323Cys) | not specified [RCV005316520] | uncertain significance | 12 | 132857504 | 132857504 | Human | | name |
| 155797638 | CV1859440 | single nucleotide variant | NM_001161346.2(CHFR):c.1231C>T (p.Gln411Ter) | not provided [RCV002465067] | likely pathogenic | 12 | 132853572 | 132853572 | Human | | name |
| 156138493 | CV2202826 | single nucleotide variant | NM_001161346.2(CHFR):c.1813C>T (p.Arg605Trp) | not specified [RCV004073681] | uncertain significance | 12 | 132844057 | 132844057 | Human | | name |
| 156243977 | CV2243016 | single nucleotide variant | NM_001161346.2(CHFR):c.1925A>G (p.Asn642Ser) | not specified [RCV004109937] | uncertain significance | 12 | 132841588 | 132841588 | Human | | name |
| 155963768 | CV2330365 | single nucleotide variant | NM_001161346.2(CHFR):c.1748C>T (p.Thr583Met) | not specified [RCV004180941] | uncertain significance | 12 | 132844122 | 132844122 | Human | | name |
| 155969150 | CV2337925 | single nucleotide variant | NM_001161346.2(CHFR):c.1568C>T (p.Pro523Leu) | not specified [RCV004183931] | uncertain significance | 12 | 132848649 | 132848649 | Human | | name |
| 155980244 | CV2343447 | single nucleotide variant | NM_001161346.2(CHFR):c.1462G>A (p.Glu488Lys) | not specified [RCV004197521] | uncertain significance | 12 | 132851648 | 132851648 | Human | | name |
| 156113100 | CV2349095 | single nucleotide variant | NM_001161346.2(CHFR):c.1357G>A (p.Val453Ile) | not specified [RCV004205941] | uncertain significance | 12 | 132853446 | 132853446 | Human | | name |
| 156183384 | CV2353229 | single nucleotide variant | NM_001161346.2(CHFR):c.1496C>T (p.Ala499Val) | not specified [RCV004203696] | uncertain significance | 12 | 132848721 | 132848721 | Human | | name |
| 156131453 | CV2372844 | single nucleotide variant | NM_001161346.2(CHFR):c.1343C>T (p.Ala448Val) | not specified [RCV004222026] | likely benign | 12 | 132853460 | 132853460 | Human | | name |
| 155906941 | CV2379169 | single nucleotide variant | NM_001161346.2(CHFR):c.1655T>C (p.Leu552Pro) | not specified [RCV004235959] | uncertain significance | 12 | 132847123 | 132847123 | Human | | name |
| 329382286 | CV2438691 | single nucleotide variant | NM_001161346.2(CHFR):c.1693G>A (p.Glu565Lys) | not specified [RCV004261849] | uncertain significance | 12 | 132847085 | 132847085 | Human | | name |
| 329368095 | CV2457084 | single nucleotide variant | NM_001161346.2(CHFR):c.1702G>T (p.Val568Leu) | not specified [RCV004264866] | uncertain significance | 12 | 132847076 | 132847076 | Human | | name |
| 329378367 | CV2463654 | single nucleotide variant | NM_001161346.2(CHFR):c.1447C>T (p.Arg483Trp) | not specified [RCV004277448] | uncertain significance | 12 | 132851663 | 132851663 | Human | | name |
| 401722070 | CV2706356 | single nucleotide variant | NM_001161346.2(CHFR):c.1036C>G (p.Leu346Val) | not specified [RCV004317201] | uncertain significance | 12 | 132857435 | 132857435 | Human | | name |
| 401874984 | CV2756159 | single nucleotide variant | NM_001161346.2(CHFR):c.1759G>A (p.Val587Ile) | not specified [RCV004338265] | uncertain significance | 12 | 132844111 | 132844111 | Human | | name |
| 405661441 | CV3300870 | single nucleotide variant | NM_001161346.2(CHFR):c.1118T>G (p.Ile373Ser) | not specified [RCV004439173] | uncertain significance | 12 | 132856579 | 132856579 | Human | | name |
| 405661450 | CV3300873 | single nucleotide variant | NM_001161346.2(CHFR):c.1544C>A (p.Thr515Asn) | not specified [RCV004439176] | uncertain significance | 12 | 132848673 | 132848673 | Human | | name |
| 405661456 | CV3300875 | single nucleotide variant | NM_001161346.2(CHFR):c.1706C>T (p.Ala569Val) | not specified [RCV004439178] | uncertain significance | 12 | 132847072 | 132847072 | Human | | name |
| 405661459 | CV3300876 | single nucleotide variant | NM_001161346.2(CHFR):c.1811A>G (p.Tyr604Cys) | not specified [RCV004439179] | uncertain significance | 12 | 132844059 | 132844059 | Human | | name |
| 405661477 | CV3300882 | single nucleotide variant | NM_001161346.2(CHFR):c.1000G>A (p.Val334Met) | not specified [RCV004439185] | uncertain significance | 12 | 132857471 | 132857471 | Human | | name |
| 407455410 | CV3422677 | single nucleotide variant | NM_001161346.2(CHFR):c.1472C>T (p.Pro491Leu) | not specified [RCV004610305] | uncertain significance | 12 | 132851638 | 132851638 | Human | | name |
| 597769193 | CV3656551 | single nucleotide variant | NM_001161346.2(CHFR):c.1178C>T (p.Ser393Leu) | not specified [RCV004896667] | uncertain significance | 12 | 132856519 | 132856519 | Human | | name |
| 598214208 | CV3951530 | single nucleotide variant | NM_001161346.2(CHFR):c.1802C>T (p.Thr601Ile) | not specified [RCV005316521] | uncertain significance | 12 | 132844068 | 132844068 | Human | | name |
| 598214214 | CV3951532 | single nucleotide variant | NM_001161346.2(CHFR):c.1459C>T (p.Arg487Cys) | not specified [RCV005316523] | uncertain significance | 12 | 132851651 | 132851651 | Human | | name |
| 598214218 | CV3951533 | single nucleotide variant | NM_001161346.2(CHFR):c.1649A>G (p.Asn550Ser) | not specified [RCV005316524] | uncertain significance | 12 | 132847129 | 132847129 | Human | | name |
| 598214222 | CV3951534 | single nucleotide variant | NM_001161346.2(CHFR):c.1664G>T (p.Arg555Ile) | not specified [RCV005316525] | uncertain significance | 12 | 132847114 | 132847114 | Human | | name |