ClinVar Miner

List of variants in gene TMC1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 382
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) rs34532421 0.08866
NM_138691.3(TMC1):c.2130-234C>A rs36032914 0.04035
NM_138691.3(TMC1):c.2130-279T>G rs13297120 0.03953
NM_138691.3(TMC1):c.742-125T>A rs141112557 0.02603
NM_138691.3(TMC1):c.-540C>T rs112220638 0.02586
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr) rs17058153 0.01743
NM_138691.3(TMC1):c.1695+37A>T rs753387796 0.01692
NM_138691.3(TMC1):c.1566+59C>A rs55633682 0.01410
NM_138691.3(TMC1):c.1696-85C>G rs79639106 0.01327
NM_138691.3(TMC1):c.1695+317C>T rs555717292 0.01159
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_138691.3(TMC1):c.741+167A>G rs182466646 0.01005
NM_138691.3(TMC1):c.363-28A>G rs77477610 0.00935
NM_138691.3(TMC1):c.*28A>C rs151157872 0.00779
NM_138691.3(TMC1):c.363-26C>A rs145181573 0.00723
NM_138691.3(TMC1):c.1225-190C>G rs142519449 0.00671
NM_138691.3(TMC1):c.2129+33C>T rs111810642 0.00648
NM_138691.3(TMC1):c.2129+197A>G rs12005837 0.00611
NM_138691.3(TMC1):c.1404+49C>G rs12003753 0.00610
NM_138691.3(TMC1):c.237-173A>G rs137976727 0.00543
NM_138691.3(TMC1):c.1029+260G>T rs112067652 0.00495
NM_138691.3(TMC1):c.1030-275T>A rs76511258 0.00490
NM_138691.3(TMC1):c.1566+306G>A rs113427480 0.00483
NM_138691.3(TMC1):c.16+207G>T rs73647684 0.00480
NM_138691.3(TMC1):c.362+124C>T rs1041642772 0.00476
NM_138691.3(TMC1):c.453+277A>C rs115208433 0.00452
NM_138691.3(TMC1):c.1696-297T>C rs115032599 0.00442
NM_138691.3(TMC1):c.2261-212A>G rs115418614 0.00434
NM_138691.3(TMC1):c.16+196T>C rs148612939 0.00411
NM_138691.3(TMC1):c.363-107G>A rs143738360 0.00395
NM_138691.3(TMC1):c.237-44G>A rs117344485 0.00383
NM_138691.3(TMC1):c.453+189G>A rs141930290 0.00315
NM_138691.3(TMC1):c.1763+198T>C rs76665233 0.00295
NM_138691.3(TMC1):c.2260+3_2260+5del rs546307383 0.00281
NM_138691.3(TMC1):c.2004-44A>C rs111781117 0.00268
NM_138691.3(TMC1):c.454-30C>T rs199771068 0.00242
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_138691.3(TMC1):c.193A>G (p.Lys65Glu) rs145098032 0.00062
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu) rs140388347 0.00061
NM_138691.3(TMC1):c.1566+8C>T rs202184917 0.00059
NM_138691.3(TMC1):c.696C>T (p.Ala232=) rs112843964 0.00047
NM_138691.3(TMC1):c.1602C>G (p.Thr534=) rs111033462 0.00046
NM_138691.3(TMC1):c.1696-14T>C rs377091685 0.00043
NM_138691.3(TMC1):c.135C>A (p.Thr45=) rs111353632 0.00036
NM_138691.3(TMC1):c.1019T>C (p.Met340Thr) rs111033464 0.00034
NM_138691.3(TMC1):c.1764-5T>C rs373603119 0.00032
NM_138691.3(TMC1):c.735C>T (p.Asp245=) rs143404572 0.00029
NM_138691.3(TMC1):c.1029+3_1029+4insT rs756987759 0.00027
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) rs200831684 0.00023
NM_138691.3(TMC1):c.-124T>C rs533837914 0.00021
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00016
NM_138691.3(TMC1):c.822G>A (p.Pro274=) rs370523728 0.00016
NM_138691.3(TMC1):c.1225-8C>T rs375785074 0.00013
NM_138691.3(TMC1):c.795A>C (p.Thr265=) rs140398130 0.00013
NM_138691.3(TMC1):c.1608C>T (p.Tyr536=) rs552170649 0.00012
NM_138691.3(TMC1):c.1773C>T (p.Ser591=) rs767247084 0.00011
NM_138691.3(TMC1):c.498G>A (p.Ala166=) rs370032879 0.00009
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile) rs150206751 0.00008
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr) rs201955337 0.00008
NM_138691.3(TMC1):c.884+15T>C rs372509718 0.00008
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) rs139985214 0.00007
NM_138691.3(TMC1):c.2129+15T>A rs747921456 0.00007
NM_138691.3(TMC1):c.*156T>C rs545955592 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.1563A>G (p.Gly521=) rs761230185 0.00005
NM_138691.3(TMC1):c.1696-17C>T rs184810305 0.00005
NM_138691.3(TMC1):c.2049C>T (p.His683=) rs184318138 0.00005
NM_138691.3(TMC1):c.483G>A (p.Glu161=) rs375984349 0.00005
NM_138691.3(TMC1):c.708G>A (p.Ser236=) rs759815339 0.00005
NM_138691.3(TMC1):c.759C>T (p.Ser253=) rs143200611 0.00005
NM_138691.3(TMC1):c.885-11T>C rs768694342 0.00005
NM_138691.3(TMC1):c.1140A>C (p.Gly380=) rs777814216 0.00004
NM_138691.3(TMC1):c.1365C>T (p.Tyr455=) rs750724544 0.00004
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys) rs142073640 0.00004
NM_138691.3(TMC1):c.65-8A>G rs201199492 0.00004
NM_138691.3(TMC1):c.*26G>C rs191962062 0.00003
NM_138691.3(TMC1):c.1311C>T (p.Ile437=) rs537381495 0.00003
NM_138691.3(TMC1):c.1362A>G (p.Leu454=) rs765094337 0.00003
NM_138691.3(TMC1):c.1405-19C>A rs1249049210 0.00003
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00003
NM_138691.3(TMC1):c.1620C>T (p.Leu540=) rs145772877 0.00003
NM_138691.3(TMC1):c.1800C>T (p.Ile600=) rs1489235333 0.00003
NM_138691.3(TMC1):c.2004-12T>A rs778448137 0.00003
NM_138691.3(TMC1):c.2223C>T (p.Asn741=) rs1262760850 0.00003
NM_138691.3(TMC1):c.2260+12G>A rs531785639 0.00003
NM_138691.3(TMC1):c.2261-16T>C rs1243733924 0.00003
NM_138691.3(TMC1):c.454-19T>C rs117399674 0.00003
NM_138691.3(TMC1):c.64+9T>C rs752499835 0.00003
NM_138691.3(TMC1):c.72G>A (p.Glu24=) rs1219870972 0.00003
NM_138691.3(TMC1):c.921T>C (p.Asp307=) rs1216176717 0.00003
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) rs148443938 0.00003
NM_138691.3(TMC1):c.1302T>C (p.His434=) rs781418962 0.00002
NM_138691.3(TMC1):c.1404+18A>G rs1385417020 0.00002
NM_138691.3(TMC1):c.1566+19G>T rs369382761 0.00002
NM_138691.3(TMC1):c.1567-20T>C rs113949345 0.00002
NM_138691.3(TMC1):c.1584A>G (p.Thr528=) rs762248733 0.00002
NM_138691.3(TMC1):c.16+4T>C rs374338788 0.00002
NM_138691.3(TMC1):c.1734C>T (p.Leu578=) rs374323593 0.00002
NM_138691.3(TMC1):c.2003+17A>G rs748887932 0.00002
NM_138691.3(TMC1):c.2010A>G (p.Lys670=) rs1017212176 0.00002
NM_138691.3(TMC1):c.2094C>T (p.Asn698=) rs778570792 0.00002
NM_138691.3(TMC1):c.2133G>A (p.Leu711=) rs535337741 0.00002
NM_138691.3(TMC1):c.2178G>A (p.Ala726=) rs555517698 0.00002
NM_138691.3(TMC1):c.2260+11C>T rs747062029 0.00002
NM_138691.3(TMC1):c.342G>A (p.Glu114=) rs370554600 0.00002
NM_138691.3(TMC1):c.362+15T>C rs779995023 0.00002
NM_138691.3(TMC1):c.643-13C>T rs1442458190 0.00002
NM_138691.3(TMC1):c.732C>T (p.Tyr244=) rs1406594679 0.00002
NM_138691.3(TMC1):c.777T>C (p.Tyr259=) rs727503482 0.00002
NM_138691.3(TMC1):c.1002A>G (p.Lys334=) rs773156746 0.00001
NM_138691.3(TMC1):c.1053A>C (p.Ala351=) rs1341802536 0.00001
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser) rs397517834 0.00001
NM_138691.3(TMC1):c.1071C>T (p.Asn357=) rs1489881026 0.00001
NM_138691.3(TMC1):c.1122A>G (p.Leu374=) rs751503196 0.00001
NM_138691.3(TMC1):c.1143C>T (p.Tyr381=) rs757327146 0.00001
NM_138691.3(TMC1):c.1182A>G (p.Ala394=) rs769519448 0.00001
NM_138691.3(TMC1):c.1224+20T>C rs763924669 0.00001
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile) rs184603559 0.00001
NM_138691.3(TMC1):c.1275C>T (p.Asp425=) rs765507648 0.00001
NM_138691.3(TMC1):c.1276T>C (p.Leu426=) rs1828275619 0.00001
NM_138691.3(TMC1):c.1329G>A (p.Leu443=) rs369197132 0.00001
NM_138691.3(TMC1):c.1485T>G (p.Ser495=) rs370302201 0.00001
NM_138691.3(TMC1):c.1500A>G (p.Gly500=) rs1035880882 0.00001
NM_138691.3(TMC1):c.1566+11C>G rs1352189885 0.00001
NM_138691.3(TMC1):c.1626G>A (p.Gly542=) rs778829243 0.00001
NM_138691.3(TMC1):c.1629C>T (p.Asp543=) rs745630603 0.00001
NM_138691.3(TMC1):c.1680C>T (p.Asp560=) rs773672736 0.00001
NM_138691.3(TMC1):c.1681T>C (p.Leu561=) rs1008485960 0.00001
NM_138691.3(TMC1):c.17-16T>C rs1181676165 0.00001
NM_138691.3(TMC1):c.1764-13G>T rs762854159 0.00001
NM_138691.3(TMC1):c.177G>A (p.Glu59=) rs751950994 0.00001
NM_138691.3(TMC1):c.1794A>G (p.Pro598=) rs756359010 0.00001
NM_138691.3(TMC1):c.1845C>T (p.Ala615=) rs746329878 0.00001
NM_138691.3(TMC1):c.1965C>T (p.Ile655=) rs373662034 0.00001
NM_138691.3(TMC1):c.1989T>C (p.Asp663=) rs777510027 0.00001
NM_138691.3(TMC1):c.2007C>G (p.Gly669=) rs1416667481 0.00001
NM_138691.3(TMC1):c.2016A>G (p.Arg672=) rs745353027 0.00001
NM_138691.3(TMC1):c.2058A>C (p.Pro686=) rs766317205 0.00001
NM_138691.3(TMC1):c.2097T>C (p.Pro699=) rs1157161615 0.00001
NM_138691.3(TMC1):c.2129+10T>C rs1350996327 0.00001
NM_138691.3(TMC1):c.2139C>T (p.Ile713=) rs748048935 0.00001
NM_138691.3(TMC1):c.2208+11A>G rs1829023253 0.00001
NM_138691.3(TMC1):c.2208+20A>T rs754557410 0.00001
NM_138691.3(TMC1):c.2208+7T>C rs1166112451 0.00001
NM_138691.3(TMC1):c.2209-18T>G rs777092231 0.00001
NM_138691.3(TMC1):c.2283A>G (p.Ter761=) rs766103436 0.00001
NM_138691.3(TMC1):c.236+12C>T rs532289573 0.00001
NM_138691.3(TMC1):c.237-5T>A rs1057515622 0.00001
NM_138691.3(TMC1):c.362+18del rs1219574411 0.00001
NM_138691.3(TMC1):c.363-20T>C rs1827362304 0.00001
NM_138691.3(TMC1):c.363-8T>C rs1258669678 0.00001
NM_138691.3(TMC1):c.405G>T (p.Gly135=) rs1391895910 0.00001
NM_138691.3(TMC1):c.453+14T>C rs1356804289 0.00001
NM_138691.3(TMC1):c.462A>G (p.Ala154=) rs539228804 0.00001
NM_138691.3(TMC1):c.507A>G (p.Pro169=) rs767019298 0.00001
NM_138691.3(TMC1):c.535+20C>T rs373823051 0.00001
NM_138691.3(TMC1):c.536-7G>A rs777142875 0.00001
NM_138691.3(TMC1):c.594C>A (p.Val198=) rs1817900949 0.00001
NM_138691.3(TMC1):c.627C>T (p.Leu209=) rs748580616 0.00001
NM_138691.3(TMC1):c.64+11A>T rs762858152 0.00001
NM_138691.3(TMC1):c.64+12T>C rs1447391652 0.00001
NM_138691.3(TMC1):c.684C>T (p.Thr228=) rs890529621 0.00001
NM_138691.3(TMC1):c.717C>T (p.Asn239=) rs988599363 0.00001
NM_138691.3(TMC1):c.741+8T>A rs757657473 0.00001
NM_138691.3(TMC1):c.742-12G>T rs886038723 0.00001
NM_138691.3(TMC1):c.780T>C (p.Tyr260=) rs754390601 0.00001
NM_138691.3(TMC1):c.87A>G (p.Glu29=) rs770793343 0.00001
NM_138691.3(TMC1):c.885-9T>C rs1221267542 0.00001
NM_138691.3(TMC1):c.927C>T (p.Asn309=) rs1454394344 0.00001
NM_138691.3(TMC1):c.975C>T (p.Ile325=) rs1268854638 0.00001
NM_138691.3(TMC1):c.984T>C (p.Pro328=) rs781353378 0.00001
GRCh37/hg19 9q21.13(chr9:75161655-75253728)x3
NM_138691.3(TMC1):c.-14_-7dup rs573607788
NM_138691.3(TMC1):c.1014C>T (p.Ile338=) rs1299560119
NM_138691.3(TMC1):c.1029+10C>G rs1301121532
NM_138691.3(TMC1):c.1029+14C>T rs2489916577
NM_138691.3(TMC1):c.1029+7G>A rs1222212369
NM_138691.3(TMC1):c.1029+7G>C
NM_138691.3(TMC1):c.1030-10A>C rs780945081
NM_138691.3(TMC1):c.1030-10A>T
NM_138691.3(TMC1):c.1030-16G>T rs1828219437
NM_138691.3(TMC1):c.1030-20G>T rs2489918029
NM_138691.3(TMC1):c.1030-31TTTG[3] rs745417408
NM_138691.3(TMC1):c.1035T>A (p.Ala345=) rs2489918085
NM_138691.3(TMC1):c.1041A>T (p.Thr347=) rs1440387246
NM_138691.3(TMC1):c.1056C>A (p.Ala352=) rs2489918147
NM_138691.3(TMC1):c.1080G>A (p.Leu360=) rs1828220657
NM_138691.3(TMC1):c.108G>A (p.Glu36=) rs2132189522
NM_138691.3(TMC1):c.1107C>T (p.Asn369=) rs2489918265
NM_138691.3(TMC1):c.1125A>G (p.Thr375=)
NM_138691.3(TMC1):c.1221T>C (p.Asn407=) rs2489918896
NM_138691.3(TMC1):c.1224+13A>C rs755939465
NM_138691.3(TMC1):c.1224+13A>G rs755939465
NM_138691.3(TMC1):c.1224+240del rs143206763
NM_138691.3(TMC1):c.1224+9_1224+10del rs1400788008
NM_138691.3(TMC1):c.1305T>A (p.Pro435=) rs2489926209
NM_138691.3(TMC1):c.1326A>T (p.Leu442=) rs1263158796
NM_138691.3(TMC1):c.1329G>T (p.Leu443=) rs369197132
NM_138691.3(TMC1):c.1335C>T (p.Arg445=) rs1828278053
NM_138691.3(TMC1):c.1356C>G (p.Gly452=) rs1588085456
NM_138691.3(TMC1):c.135C>T (p.Thr45=)
NM_138691.3(TMC1):c.1368A>G (p.Val456=) rs1828279180
NM_138691.3(TMC1):c.1371T>C (p.Phe457=) rs2489926456
NM_138691.3(TMC1):c.1380A>T (p.Ala460=) rs1319613360
NM_138691.3(TMC1):c.1404+10G>C rs2489926582
NM_138691.3(TMC1):c.1404+17G>C rs1828280651
NM_138691.3(TMC1):c.1405-17A>G rs1828282489
NM_138691.3(TMC1):c.1434T>C (p.Asn478=) rs2489926975
NM_138691.3(TMC1):c.1440C>T (p.Thr480=) rs1301469408
NM_138691.3(TMC1):c.1443T>C (p.Leu481=) rs1481066869
NM_138691.3(TMC1):c.1443T>G (p.Leu481=) rs1481066869
NM_138691.3(TMC1):c.147C>A (p.Ile49=) rs2489705679
NM_138691.3(TMC1):c.1485T>A (p.Ser495=) rs370302201
NM_138691.3(TMC1):c.1494C>T (p.Ser498=) rs1828284756
NM_138691.3(TMC1):c.1506C>G (p.Pro502=) rs2118194195
NM_138691.3(TMC1):c.1524A>G (p.Ala508=)
NM_138691.3(TMC1):c.1539A>G (p.Gly513=) rs1223250748
NM_138691.3(TMC1):c.1542T>C (p.Pro514=) rs2489927398
NM_138691.3(TMC1):c.1566+14C>G rs2489927480
NM_138691.3(TMC1):c.1566+19G>A rs369382761
NM_138691.3(TMC1):c.1566+7C>G rs544924157
NM_138691.3(TMC1):c.1567-12del rs1168127482
NM_138691.3(TMC1):c.1567-15A>G rs746170962
NM_138691.3(TMC1):c.1567-4A>G rs369562300
NM_138691.3(TMC1):c.1567-8C>A rs1266071857
NM_138691.3(TMC1):c.1590T>A (p.Ser530=)
NM_138691.3(TMC1):c.1599G>A (p.Leu533=) rs868570521
NM_138691.3(TMC1):c.16+14C>A rs1390422060
NM_138691.3(TMC1):c.16+20T>C rs2489587315
NM_138691.3(TMC1):c.16+23_16+26del rs2489587309
NM_138691.3(TMC1):c.1602C>T (p.Thr534=) rs111033462
NM_138691.3(TMC1):c.1633C>T (p.Leu545=) rs1480474842
NM_138691.3(TMC1):c.1653G>A (p.Arg551=) rs2489958149
NM_138691.3(TMC1):c.1665T>C (p.Tyr555=) rs1828558685
NM_138691.3(TMC1):c.1695+11T>C rs760340183
NM_138691.3(TMC1):c.1695+12G>A rs2489958371
NM_138691.3(TMC1):c.1695+17T>G rs2489958378
NM_138691.3(TMC1):c.1695+8T>C rs2489958350
NM_138691.3(TMC1):c.1696-11_1696-10del rs563515255
NM_138691.3(TMC1):c.1696-19A>T rs770370818
NM_138691.3(TMC1):c.1696-7C>T
NM_138691.3(TMC1):c.17-6C>A
NM_138691.3(TMC1):c.1701A>G (p.Ser567=) rs2489978551
NM_138691.3(TMC1):c.1704C>T (p.Tyr568=) rs1369821363
NM_138691.3(TMC1):c.1707C>A (p.Thr569=) rs760464772
NM_138691.3(TMC1):c.1707C>T (p.Thr569=) rs760464772
NM_138691.3(TMC1):c.1749C>T (p.Asn583=) rs2489978690
NM_138691.3(TMC1):c.1763+15G>A
NM_138691.3(TMC1):c.1763+17A>G rs748357997
NM_138691.3(TMC1):c.1763+8A>G rs2489978770
NM_138691.3(TMC1):c.1764-12T>C rs1828856602
NM_138691.3(TMC1):c.1764-13G>C rs762854159
NM_138691.3(TMC1):c.1764-15C>G rs772773999
NM_138691.3(TMC1):c.1764-15C>T rs772773999
NM_138691.3(TMC1):c.1764-17T>C
NM_138691.3(TMC1):c.1764-17T>G rs1415673326
NM_138691.3(TMC1):c.1902C>T (p.Asn634=) rs767285617
NM_138691.3(TMC1):c.1911G>C (p.Leu637=) rs764348919
NM_138691.3(TMC1):c.1914C>A (p.Gly638=)
NM_138691.3(TMC1):c.1921C>T (p.Leu641=) rs1318364193
NM_138691.3(TMC1):c.1941C>T (p.Ser647=) rs2118299085
NM_138691.3(TMC1):c.1968G>A (p.Val656=) rs2489985292
NM_138691.3(TMC1):c.1971C>T (p.Ser657=)
NM_138691.3(TMC1):c.1980A>G (p.Pro660=) rs2489985323
NM_138691.3(TMC1):c.2003+18T>C rs770437209
NM_138691.3(TMC1):c.2004-18C>T rs2489994092
NM_138691.3(TMC1):c.2004-20C>T rs756893278
NM_138691.3(TMC1):c.2004-5C>T rs1474821726
NM_138691.3(TMC1):c.2046G>A (p.Glu682=) rs1828966155
NM_138691.3(TMC1):c.2085G>A (p.Gln695=) rs756948278
NM_138691.3(TMC1):c.2129+13C>T rs2489994500
NM_138691.3(TMC1):c.2129+7G>C
NM_138691.3(TMC1):c.2130-13C>T rs1393474905
NM_138691.3(TMC1):c.2130-13_2130-12del rs2489999383
NM_138691.3(TMC1):c.2130-13_2130-9del rs1396682691
NM_138691.3(TMC1):c.2130-14T>G rs2489999381
NM_138691.3(TMC1):c.2130-9T>G
NM_138691.3(TMC1):c.2136C>T (p.Ala712=) rs2489999431
NM_138691.3(TMC1):c.2148C>G (p.Leu716=) rs1829021570
NM_138691.3(TMC1):c.2154T>C (p.Ala718=)
NM_138691.3(TMC1):c.2193A>G (p.Lys731=)
NM_138691.3(TMC1):c.2196G>A (p.Lys732=) rs142701058
NM_138691.3(TMC1):c.2208+15A>G rs2489999737
NM_138691.3(TMC1):c.2208+18T>C rs2489999746
NM_138691.3(TMC1):c.2208+19C>T rs2489999753
NM_138691.3(TMC1):c.2208+9C>A rs1829023196
NM_138691.3(TMC1):c.2209-16A>G rs765588386
NM_138691.3(TMC1):c.2209-17T>G rs762114112
NM_138691.3(TMC1):c.2209-7T>C rs2490000105
NM_138691.3(TMC1):c.2209-9_2209-8del rs2490000093
NM_138691.3(TMC1):c.2241A>G (p.Lys747=) rs1465702507
NM_138691.3(TMC1):c.2260+10A>C rs2529184680
NM_138691.3(TMC1):c.2260+16A>G rs2490000433
NM_138691.3(TMC1):c.2260+19T>A rs2490000452
NM_138691.3(TMC1):c.2260+27_2260+35del rs763423820
NM_138691.3(TMC1):c.2260+46C>T rs956799073
NM_138691.3(TMC1):c.2260+8A>C rs2490000402
NM_138691.3(TMC1):c.2261-13G>A rs115008515
NM_138691.3(TMC1):c.2261-16_2261-15insTAT rs1554731445
NM_138691.3(TMC1):c.2261-17T>G rs1044149765
NM_138691.3(TMC1):c.2261-53TC[8] rs113386228
NM_138691.3(TMC1):c.2261-8G>T rs775297606
NM_138691.3(TMC1):c.2265A>T (p.Ala755=) rs1262686046
NM_138691.3(TMC1):c.236+12C>G rs532289573
NM_138691.3(TMC1):c.236+9G>C rs2489706109
NM_138691.3(TMC1):c.237-236dup rs11378545
NM_138691.3(TMC1):c.237-254del rs113598491
NM_138691.3(TMC1):c.237-254dup rs113598491
NM_138691.3(TMC1):c.237-6T>C rs2489718855
NM_138691.3(TMC1):c.237-7T>G rs1826624309
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138691.3(TMC1):c.286T>C (p.Leu96=) rs2489719127
NM_138691.3(TMC1):c.291T>C (p.Asp97=) rs1404599529
NM_138691.3(TMC1):c.315T>C (p.Thr105=) rs1237261384
NM_138691.3(TMC1):c.362+101AC[10] rs1189207416
NM_138691.3(TMC1):c.362+101AC[9] rs1189207416
NM_138691.3(TMC1):c.362+118_362+119del rs1554721639
NM_138691.3(TMC1):c.362+11A>G rs1826626517
NM_138691.3(TMC1):c.362+12_362+15dup
NM_138691.3(TMC1):c.362+71AT[12] rs72200654
NM_138691.3(TMC1):c.362+8_362+9del rs2489719518
NM_138691.3(TMC1):c.362+99_362+100insCA rs1256344062
NM_138691.3(TMC1):c.362+9C>T rs1453543733
NM_138691.3(TMC1):c.363-11T>G
NM_138691.3(TMC1):c.399T>C (p.Ala133=) rs2489806461
NM_138691.3(TMC1):c.435T>C (p.Phe145=) rs2489806744
NM_138691.3(TMC1):c.453+15A>C rs2489806966
NM_138691.3(TMC1):c.453+16G>A rs777928804
NM_138691.3(TMC1):c.454-13A>T rs2489814208
NM_138691.3(TMC1):c.454-20G>T rs771053186
NM_138691.3(TMC1):c.454-4T>G rs2489814243
NM_138691.3(TMC1):c.454-9T>C rs1564525518
NM_138691.3(TMC1):c.504C>G (p.Val168=) rs758924923
NM_138691.3(TMC1):c.536-18T>C rs2489834490
NM_138691.3(TMC1):c.540G>A (p.Gln180=) rs2489834575
NM_138691.3(TMC1):c.558C>T (p.Ala186=) rs1827585145
NM_138691.3(TMC1):c.570C>T (p.Leu190=)
NM_138691.3(TMC1):c.64+19C>T rs1033776269
NM_138691.3(TMC1):c.64+7G>A
NM_138691.3(TMC1):c.642+11A>G
NM_138691.3(TMC1):c.642+14T>G
NM_138691.3(TMC1):c.642+7T>A rs2489835312
NM_138691.3(TMC1):c.643-14G>A
NM_138691.3(TMC1):c.645C>T (p.Tyr215=) rs964315149
NM_138691.3(TMC1):c.648C>G (p.Leu216=) rs1340357418
NM_138691.3(TMC1):c.65-11G>C rs182636408
NM_138691.3(TMC1):c.65-8A>C rs201199492
NM_138691.3(TMC1):c.663T>C (p.Tyr221=) rs2489841544
NM_138691.3(TMC1):c.666C>T (p.Gly222=) rs2489841560
NM_138691.3(TMC1):c.684C>A (p.Thr228=) rs890529621
NM_138691.3(TMC1):c.687T>C (p.Val229=) rs1283610185
NM_138691.3(TMC1):c.702G>A (p.Glu234=) rs762790929
NM_138691.3(TMC1):c.741+140GAAA[3] rs1201958519
NM_138691.3(TMC1):c.741+155AG[6] rs1379638342
NM_138691.3(TMC1):c.741+155AG[7] rs1379638342
NM_138691.3(TMC1):c.741+18A>G rs2489841894
NM_138691.3(TMC1):c.742-12G>A rs886038723
NM_138691.3(TMC1):c.742-19C>A rs1827941760
NM_138691.3(TMC1):c.742-20G>A rs369458472
NM_138691.3(TMC1):c.742-20G>T rs369458472
NM_138691.3(TMC1):c.765C>A (p.Leu255=) rs201230747
NM_138691.3(TMC1):c.789A>G (p.Lys263=) rs2489883297
NM_138691.3(TMC1):c.78G>A (p.Glu26=) rs769476838
NM_138691.3(TMC1):c.822G>T (p.Pro274=) rs370523728
NM_138691.3(TMC1):c.828C>T (p.Ser276=) rs1018030860
NM_138691.3(TMC1):c.837A>G (p.Leu279=) rs2489883495
NM_138691.3(TMC1):c.843G>T (p.Gly281=) rs2489883534
NM_138691.3(TMC1):c.84G>A (p.Val28=) rs748771130
NM_138691.3(TMC1):c.873T>G (p.Val291=) rs1339556115
NM_138691.3(TMC1):c.879C>G (p.Leu293=) rs772213890
NM_138691.3(TMC1):c.884+12T>C rs2489883852
NM_138691.3(TMC1):c.884+19T>G rs2489883893
NM_138691.3(TMC1):c.884+9C>T rs2489883840
NM_138691.3(TMC1):c.885-8T>G rs2489915763
NM_138691.3(TMC1):c.897C>T (p.Asn299=) rs2489915830
NM_138691.3(TMC1):c.924C>T (p.Asp308=) rs113342704
NM_138691.3(TMC1):c.933C>T (p.Phe311=)
NM_138691.3(TMC1):c.942C>T (p.Ser314=) rs1460931936
NM_138691.3(TMC1):c.94C>T (p.Leu32=) rs1826518222
NM_138691.3(TMC1):c.951C>G (p.Val317=) rs1588083627
NM_138691.3(TMC1):c.9C>T (p.Pro3=) rs2489587225

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