ClinVar Miner

List of variants in gene TMC1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 428
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.45C>T (p.Asp15=) rs2589615 0.51851
NM_138691.3(TMC1):c.241G>A (p.Glu81Lys) rs1796993 0.21988
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) rs34532421 0.08866
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr) rs17058153 0.01664
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_138691.3(TMC1):c.2260+3_2260+5del rs546307383 0.00308
NM_138691.3(TMC1):c.1404+16G>A rs189532643 0.00254
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
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.1763+3A>G rs370898981 0.00056
NM_138691.3(TMC1):c.696C>T (p.Ala232=) rs112843964 0.00047
NM_138691.3(TMC1):c.1602C>G (p.Thr534=) rs111033462 0.00044
NM_138691.3(TMC1):c.135C>A (p.Thr45=) rs111353632 0.00036
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) rs140437301 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.1534C>T (p.Arg512Ter) rs200171616 0.00031
NM_138691.3(TMC1):c.1705A>G (p.Thr569Ala) rs148971770 0.00029
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) rs200831684 0.00021
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
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.1608C>T (p.Tyr536=) rs552170649 0.00013
NM_138691.3(TMC1):c.795A>C (p.Thr265=) rs140398130 0.00013
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu) rs149947445 0.00011
NM_138691.3(TMC1):c.2177C>T (p.Ala726Val) rs573874378 0.00011
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile) rs150206751 0.00010
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter) rs150738413 0.00010
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.2129+15T>A rs747921456 0.00008
NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser) rs139102393 0.00008
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys) rs746724027 0.00008
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) rs139985214 0.00007
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) rs151001642 0.00006
NM_138691.3(TMC1):c.1301A>C (p.His434Pro) rs375264737 0.00006
NM_138691.3(TMC1):c.1966G>A (p.Val656Met) rs144147585 0.00006
NM_138691.3(TMC1):c.708G>A (p.Ser236=) rs759815339 0.00006
NM_138691.3(TMC1):c.928A>G (p.Thr310Ala) rs144501871 0.00006
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) rs369890353 0.00005
NM_138691.3(TMC1):c.59G>C (p.Ser20Thr) rs189479995 0.00005
NM_138691.3(TMC1):c.885-11T>C rs768694342 0.00005
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter) rs876657728 0.00004
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp) rs764992976 0.00004
NM_138691.3(TMC1):c.956C>G (p.Thr319Ser) rs142629075 0.00004
NM_138691.3(TMC1):c.1018A>G (p.Met340Val) rs771281791 0.00003
NM_138691.3(TMC1):c.1311C>T (p.Ile437=) rs537381495 0.00003
NM_138691.3(TMC1):c.1387G>A (p.Asp463Asn) rs758352261 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_138691.3(TMC1):c.627C>T (p.Leu209=) rs748580616 0.00003
NM_138691.3(TMC1):c.921T>C (p.Asp307=) rs1216176717 0.00003
NM_138691.3(TMC1):c.984T>C (p.Pro328=) rs781353378 0.00003
NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr) rs745495139 0.00002
NM_138691.3(TMC1):c.1584A>G (p.Thr528=) rs762248733 0.00002
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_138691.3(TMC1):c.2178G>A (p.Ala726=) rs555517698 0.00002
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys) rs142073640 0.00002
NM_138691.3(TMC1):c.342G>A (p.Glu114=) rs370554600 0.00002
NM_138691.3(TMC1):c.674C>T (p.Pro225Leu) rs370088722 0.00002
NM_138691.3(TMC1):c.777T>C (p.Tyr259=) rs727503482 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_138691.3(TMC1):c.1010C>A (p.Ser337Tyr) rs376305043 0.00001
NM_138691.3(TMC1):c.1029+3A>G rs1588083737 0.00001
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile) rs184603559 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 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.1735G>A (p.Ala579Thr) rs1250257217 0.00001
NM_138691.3(TMC1):c.1810C>T (p.Arg604Ter) rs777777359 0.00001
NM_138691.3(TMC1):c.2208+20A>T rs754557410 0.00001
NM_138691.3(TMC1):c.237-5T>A rs1057515622 0.00001
NM_138691.3(TMC1):c.352G>T (p.Glu118Ter) rs1439351996 0.00001
NM_138691.3(TMC1):c.405G>T (p.Gly135=) rs1391895910 0.00001
NM_138691.3(TMC1):c.462A>G (p.Ala154=) rs539228804 0.00001
NM_138691.3(TMC1):c.582G>A (p.Trp194Ter) rs1172357346 0.00001
NM_138691.3(TMC1):c.64A>G (p.Ser22Gly) rs144387828 0.00001
NM_138691.3(TMC1):c.684C>T (p.Thr228=) rs890529621 0.00001
NM_138691.3(TMC1):c.707C>T (p.Ser236Leu) rs751873680 0.00001
NM_138691.3(TMC1):c.742-12G>T rs886038723 0.00001
NC_000009.11:g.(?_75231331)_(75387491_?)del
NC_000009.11:g.(?_75231331)_(75407288_?)del
NC_000009.12:g.72740120_72740123del
NM_138691.3(TMC1):c.1002A>G (p.Lys334=)
NM_138691.3(TMC1):c.1014C>T (p.Ile338=)
NM_138691.3(TMC1):c.1029+10C>G
NM_138691.3(TMC1):c.1029+14C>T
NM_138691.3(TMC1):c.1029+3_1029+4insT
NM_138691.3(TMC1):c.1029+7G>A
NM_138691.3(TMC1):c.1030-10A>C
NM_138691.3(TMC1):c.1030-16G>T
NM_138691.3(TMC1):c.1030-20G>T
NM_138691.3(TMC1):c.1030-98_1177del
NM_138691.3(TMC1):c.1035T>A (p.Ala345=)
NM_138691.3(TMC1):c.1041A>T (p.Thr347=)
NM_138691.3(TMC1):c.1053A>C (p.Ala351=)
NM_138691.3(TMC1):c.1056C>A (p.Ala352=)
NM_138691.3(TMC1):c.1080G>A (p.Leu360=)
NM_138691.3(TMC1):c.108G>A (p.Glu36=)
NM_138691.3(TMC1):c.1107C>T (p.Asn369=)
NM_138691.3(TMC1):c.1113C>A (p.Phe371Leu) rs762332645
NM_138691.3(TMC1):c.1122A>G (p.Leu374=)
NM_138691.3(TMC1):c.1136G>A (p.Ser379Asn)
NM_138691.3(TMC1):c.1140A>C (p.Gly380=)
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter) rs757327146
NM_138691.3(TMC1):c.1143C>T (p.Tyr381=)
NM_138691.3(TMC1):c.1166G>A (p.Arg389Gln)
NM_138691.3(TMC1):c.1182A>G (p.Ala394=)
NM_138691.3(TMC1):c.1221T>C (p.Asn407=)
NM_138691.3(TMC1):c.1224+13A>C
NM_138691.3(TMC1):c.1224+13A>G
NM_138691.3(TMC1):c.1224+20T>C
NM_138691.3(TMC1):c.1224+2T>C rs1564555240
NM_138691.3(TMC1):c.1224+9_1224+10del
NM_138691.3(TMC1):c.1252A>G (p.Met418Val)
NM_138691.3(TMC1):c.1252A>T (p.Met418Leu) rs775453038
NM_138691.3(TMC1):c.1275C>T (p.Asp425=)
NM_138691.3(TMC1):c.1276T>C (p.Leu426=)
NM_138691.3(TMC1):c.1302T>C (p.His434=)
NM_138691.3(TMC1):c.1305T>A (p.Pro435=)
NM_138691.3(TMC1):c.1309A>G (p.Ile437Val)
NM_138691.3(TMC1):c.1326A>T (p.Leu442=)
NM_138691.3(TMC1):c.1326_1330delinsTTGAAAT (p.Leu443_Gly444delinsTer)
NM_138691.3(TMC1):c.1329G>A (p.Leu443=)
NM_138691.3(TMC1):c.1329G>T (p.Leu443=)
NM_138691.3(TMC1):c.1332del (p.Arg445fs)
NM_138691.3(TMC1):c.1335C>T (p.Arg445=)
NM_138691.3(TMC1):c.1356C>G (p.Gly452=) rs1588085456
NM_138691.3(TMC1):c.1362A>G (p.Leu454=)
NM_138691.3(TMC1):c.1365C>A (p.Tyr455Ter)
NM_138691.3(TMC1):c.1365C>T (p.Tyr455=)
NM_138691.3(TMC1):c.1368A>G (p.Val456=)
NM_138691.3(TMC1):c.1371T>C (p.Phe457=)
NM_138691.3(TMC1):c.1380A>T (p.Ala460=)
NM_138691.3(TMC1):c.1389T>A (p.Asp463Glu)
NM_138691.3(TMC1):c.1398CAA[1] (p.Asn467del)
NM_138691.3(TMC1):c.1404+10G>C
NM_138691.3(TMC1):c.1404+17G>C
NM_138691.3(TMC1):c.1404+18A>G
NM_138691.3(TMC1):c.1405-17A>G
NM_138691.3(TMC1):c.1405-19C>A
NM_138691.3(TMC1):c.1405-1G>C
NM_138691.3(TMC1):c.1405-2A>T
NM_138691.3(TMC1):c.1434T>C (p.Asn478=)
NM_138691.3(TMC1):c.1440C>T (p.Thr480=)
NM_138691.3(TMC1):c.1443T>C (p.Leu481=)
NM_138691.3(TMC1):c.1443T>G (p.Leu481=)
NM_138691.3(TMC1):c.1449A>C (p.Glu483Asp) rs1554728060
NM_138691.3(TMC1):c.147C>A (p.Ile49=)
NM_138691.3(TMC1):c.1485T>A (p.Ser495=)
NM_138691.3(TMC1):c.1485T>G (p.Ser495=)
NM_138691.3(TMC1):c.1487A>G (p.Glu496Gly) rs2118194034
NM_138691.3(TMC1):c.1494C>T (p.Ser498=)
NM_138691.3(TMC1):c.1500A>G (p.Gly500=)
NM_138691.3(TMC1):c.1535G>A (p.Arg512Gln)
NM_138691.3(TMC1):c.1539A>G (p.Gly513=)
NM_138691.3(TMC1):c.1542T>C (p.Pro514=)
NM_138691.3(TMC1):c.1544G>T (p.Cys515Phe)
NM_138691.3(TMC1):c.1563A>G (p.Gly521=)
NM_138691.3(TMC1):c.1566+11C>G
NM_138691.3(TMC1):c.1566+14C>G
NM_138691.3(TMC1):c.1566+19G>A
NM_138691.3(TMC1):c.1566+19G>T
NM_138691.3(TMC1):c.1566+7C>G
NM_138691.3(TMC1):c.1567-12del
NM_138691.3(TMC1):c.1567-15A>G
NM_138691.3(TMC1):c.1567-1G>A
NM_138691.3(TMC1):c.1567-20T>C
NM_138691.3(TMC1):c.1567-8C>A
NM_138691.3(TMC1):c.16+14C>A
NM_138691.3(TMC1):c.16+1G>A
NM_138691.3(TMC1):c.16+20T>C
NM_138691.3(TMC1):c.16+23_16+26del
NM_138691.3(TMC1):c.1602C>T (p.Thr534=)
NM_138691.3(TMC1):c.1607A>G (p.Tyr536Cys)
NM_138691.3(TMC1):c.1620C>T (p.Leu540=)
NM_138691.3(TMC1):c.1633C>T (p.Leu545=)
NM_138691.3(TMC1):c.1653G>A (p.Arg551=)
NM_138691.3(TMC1):c.1665T>C (p.Tyr555=)
NM_138691.3(TMC1):c.1670G>C (p.Trp557Ser)
NM_138691.3(TMC1):c.1677G>A (p.Trp559Ter) rs876657729
NM_138691.3(TMC1):c.1680C>T (p.Asp560=)
NM_138691.3(TMC1):c.1681T>C (p.Leu561=)
NM_138691.3(TMC1):c.1688A>G (p.Tyr563Cys) rs2118239557
NM_138691.3(TMC1):c.1695+11T>C
NM_138691.3(TMC1):c.1695+12G>A
NM_138691.3(TMC1):c.1695+17T>G
NM_138691.3(TMC1):c.1695+2T>G
NM_138691.3(TMC1):c.1695+8T>C
NM_138691.3(TMC1):c.1696-11_1696-10del rs563515255
NM_138691.3(TMC1):c.1696-14T>C
NM_138691.3(TMC1):c.1696-17C>T
NM_138691.3(TMC1):c.1696-19A>T
NM_138691.3(TMC1):c.17-16T>C
NM_138691.3(TMC1):c.1701A>G (p.Ser567=)
NM_138691.3(TMC1):c.1704C>T (p.Tyr568=)
NM_138691.3(TMC1):c.1707C>A (p.Thr569=)
NM_138691.3(TMC1):c.1707C>T (p.Thr569=)
NM_138691.3(TMC1):c.1734C>T (p.Leu578=) rs374323593
NM_138691.3(TMC1):c.1749C>T (p.Asn583=)
NM_138691.3(TMC1):c.1750C>T (p.Gln584Ter)
NM_138691.3(TMC1):c.1751A>G (p.Gln584Arg)
NM_138691.3(TMC1):c.1757del (p.Met586fs)
NM_138691.3(TMC1):c.1762T>C (p.Trp588Arg)
NM_138691.3(TMC1):c.1763+17A>G
NM_138691.3(TMC1):c.1763+20G>A
NM_138691.3(TMC1):c.1763+8A>G
NM_138691.3(TMC1):c.1764-12T>C
NM_138691.3(TMC1):c.1764-13G>C
NM_138691.3(TMC1):c.1764-13G>T
NM_138691.3(TMC1):c.1764-15C>G
NM_138691.3(TMC1):c.1764-15C>T
NM_138691.3(TMC1):c.1764-17T>G
NM_138691.3(TMC1):c.1764G>A (p.Trp588Ter)
NM_138691.3(TMC1):c.1773C>T (p.Ser591=)
NM_138691.3(TMC1):c.177G>A (p.Glu59=)
NM_138691.3(TMC1):c.1780del (p.Ala594fs)
NM_138691.3(TMC1):c.1794A>G (p.Pro598=)
NM_138691.3(TMC1):c.1800C>T (p.Ile600=)
NM_138691.3(TMC1):c.1805T>G (p.Ile602Ser)
NM_138691.3(TMC1):c.1845C>T (p.Ala615=)
NM_138691.3(TMC1):c.1902C>T (p.Asn634=)
NM_138691.3(TMC1):c.1911G>C (p.Leu637=)
NM_138691.3(TMC1):c.1921C>T (p.Leu641=)
NM_138691.3(TMC1):c.193A>G (p.Lys65Glu)
NM_138691.3(TMC1):c.1946T>C (p.Met649Thr)
NM_138691.3(TMC1):c.1965C>T (p.Ile655=)
NM_138691.3(TMC1):c.1968G>A (p.Val656=)
NM_138691.3(TMC1):c.1980A>G (p.Pro660=)
NM_138691.3(TMC1):c.1989T>C (p.Asp663=)
NM_138691.3(TMC1):c.2003+17A>G
NM_138691.3(TMC1):c.2003+18T>C
NM_138691.3(TMC1):c.2004-12T>A
NM_138691.3(TMC1):c.2004-18C>T
NM_138691.3(TMC1):c.2004-20C>T
NM_138691.3(TMC1):c.2004-5C>T
NM_138691.3(TMC1):c.2007C>G (p.Gly669=)
NM_138691.3(TMC1):c.2010A>G (p.Lys670=)
NM_138691.3(TMC1):c.2012dup (p.Asn671fs) rs2118318502
NM_138691.3(TMC1):c.2014A>G (p.Arg672Gly) rs1164767371
NM_138691.3(TMC1):c.2016A>G (p.Arg672=)
NM_138691.3(TMC1):c.2030T>C (p.Ile677Thr)
NM_138691.3(TMC1):c.2046G>A (p.Glu682=)
NM_138691.3(TMC1):c.2049C>T (p.His683=)
NM_138691.3(TMC1):c.2050G>A (p.Asp684Asn) rs563322370
NM_138691.3(TMC1):c.2050G>C (p.Asp684His)
NM_138691.3(TMC1):c.2058A>C (p.Pro686=)
NM_138691.3(TMC1):c.2085G>A (p.Gln695=)
NM_138691.3(TMC1):c.2094C>T (p.Asn698=)
NM_138691.3(TMC1):c.2097T>C (p.Pro699=)
NM_138691.3(TMC1):c.2129+10T>C
NM_138691.3(TMC1):c.2129+13C>T
NM_138691.3(TMC1):c.2130-13C>T
NM_138691.3(TMC1):c.2130-13_2130-12del
NM_138691.3(TMC1):c.2130-13_2130-9del
NM_138691.3(TMC1):c.2130-14T>G
NM_138691.3(TMC1):c.2130-1del rs1554731002
NM_138691.3(TMC1):c.2133G>A (p.Leu711=)
NM_138691.3(TMC1):c.2136C>T (p.Ala712=)
NM_138691.3(TMC1):c.2139C>T (p.Ile713=)
NM_138691.3(TMC1):c.2145T>G (p.Tyr715Ter)
NM_138691.3(TMC1):c.2148C>G (p.Leu716=)
NM_138691.3(TMC1):c.2163G>T (p.Lys721Asn)
NM_138691.3(TMC1):c.2196G>A (p.Lys732=)
NM_138691.3(TMC1):c.2208+11A>G
NM_138691.3(TMC1):c.2208+15A>G
NM_138691.3(TMC1):c.2208+18T>C
NM_138691.3(TMC1):c.2208+19C>T
NM_138691.3(TMC1):c.2208+7T>C
NM_138691.3(TMC1):c.2208+9C>A
NM_138691.3(TMC1):c.2209-10dup
NM_138691.3(TMC1):c.2209-16A>G
NM_138691.3(TMC1):c.2209-17T>G
NM_138691.3(TMC1):c.2209-18T>G
NM_138691.3(TMC1):c.2209-7T>C
NM_138691.3(TMC1):c.2209-9_2209-8del
NM_138691.3(TMC1):c.2223C>T (p.Asn741=)
NM_138691.3(TMC1):c.2241A>G (p.Lys747=)
NM_138691.3(TMC1):c.2249C>A (p.Ala750Asp) rs1829026565
NM_138691.3(TMC1):c.2260+10A>C
NM_138691.3(TMC1):c.2260+11C>T
NM_138691.3(TMC1):c.2260+12G>A
NM_138691.3(TMC1):c.2260+16A>G
NM_138691.3(TMC1):c.2260+19T>A
NM_138691.3(TMC1):c.2260+27_2260+35del
NM_138691.3(TMC1):c.2260+5G>A
NM_138691.3(TMC1):c.2260+8A>C
NM_138691.3(TMC1):c.2261-13G>A
NM_138691.3(TMC1):c.2261-16T>C rs1243733924
NM_138691.3(TMC1):c.2261-16_2261-15insTAT
NM_138691.3(TMC1):c.2261-17T>G
NM_138691.3(TMC1):c.2261-1G>A
NM_138691.3(TMC1):c.2261-8G>T rs775297606
NM_138691.3(TMC1):c.2265A>T (p.Ala755=)
NM_138691.3(TMC1):c.2283A>G (p.Ter761=)
NM_138691.3(TMC1):c.236+12C>G
NM_138691.3(TMC1):c.236+12C>T
NM_138691.3(TMC1):c.236+9G>C
NM_138691.3(TMC1):c.237-6T>C
NM_138691.3(TMC1):c.237-7T>G
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138691.3(TMC1):c.244G>T (p.Glu82Ter)
NM_138691.3(TMC1):c.247G>T (p.Glu83Ter)
NM_138691.3(TMC1):c.282dup (p.Glu95fs)
NM_138691.3(TMC1):c.286T>C (p.Leu96=)
NM_138691.3(TMC1):c.291T>C (p.Asp97=)
NM_138691.3(TMC1):c.315T>C (p.Thr105=)
NM_138691.3(TMC1):c.331T>C (p.Trp111Arg)
NM_138691.3(TMC1):c.332G>A (p.Trp111Ter) rs1345926328
NM_138691.3(TMC1):c.345G>C (p.Lys115Asn)
NM_138691.3(TMC1):c.35A>G (p.Glu12Gly) rs2132183942
NM_138691.3(TMC1):c.360del (p.Lys121fs)
NM_138691.3(TMC1):c.362+11A>G
NM_138691.3(TMC1):c.362+15T>C
NM_138691.3(TMC1):c.362+18del
NM_138691.3(TMC1):c.362+1G>C
NM_138691.3(TMC1):c.362+8_362+9del
NM_138691.3(TMC1):c.362+9C>T
NM_138691.3(TMC1):c.363-20T>C
NM_138691.3(TMC1):c.363-8T>C
NM_138691.3(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.3(TMC1):c.375dup (p.Phe126fs)
NM_138691.3(TMC1):c.399T>C (p.Ala133=)
NM_138691.3(TMC1):c.422G>A (p.Arg141Gln)
NM_138691.3(TMC1):c.435T>C (p.Phe145=)
NM_138691.3(TMC1):c.453+14T>C
NM_138691.3(TMC1):c.453+15A>C
NM_138691.3(TMC1):c.453+16G>A
NM_138691.3(TMC1):c.454-13A>T
NM_138691.3(TMC1):c.454-19T>C
NM_138691.3(TMC1):c.454-20G>T
NM_138691.3(TMC1):c.454-4T>G
NM_138691.3(TMC1):c.454-9T>C
NM_138691.3(TMC1):c.458G>A (p.Trp153Ter)
NM_138691.3(TMC1):c.504C>G (p.Val168=)
NM_138691.3(TMC1):c.507A>G (p.Pro169=)
NM_138691.3(TMC1):c.509G>A (p.Trp170Ter)
NM_138691.3(TMC1):c.510G>A (p.Trp170Ter)
NM_138691.3(TMC1):c.535+20C>T
NM_138691.3(TMC1):c.536-18T>C
NM_138691.3(TMC1):c.536-1G>A
NM_138691.3(TMC1):c.536-7G>A
NM_138691.3(TMC1):c.537T>G (p.Ser179Arg)
NM_138691.3(TMC1):c.540G>A (p.Gln180=)
NM_138691.3(TMC1):c.558C>T (p.Ala186=)
NM_138691.3(TMC1):c.562_563dup (p.Phe189fs)
NM_138691.3(TMC1):c.586T>A (p.Tyr196Asn)
NM_138691.3(TMC1):c.589G>A (p.Gly197Arg)
NM_138691.3(TMC1):c.594C>A (p.Val198=)
NM_138691.3(TMC1):c.5C>A (p.Ser2Ter)
NM_138691.3(TMC1):c.617C>T (p.Thr206Ile)
NM_138691.3(TMC1):c.619T>A (p.Phe207Ile)
NM_138691.3(TMC1):c.64+11A>T
NM_138691.3(TMC1):c.64+12T>C
NM_138691.3(TMC1):c.64+19C>T rs1033776269
NM_138691.3(TMC1):c.64+2T>A
NM_138691.3(TMC1):c.64+2T>C
NM_138691.3(TMC1):c.64+9T>C
NM_138691.3(TMC1):c.642+7T>A
NM_138691.3(TMC1):c.643-13C>T
NM_138691.3(TMC1):c.645C>A (p.Tyr215Ter)
NM_138691.3(TMC1):c.645C>T (p.Tyr215=)
NM_138691.3(TMC1):c.648C>G (p.Leu216=)
NM_138691.3(TMC1):c.65-11G>C
NM_138691.3(TMC1):c.65-8A>C
NM_138691.3(TMC1):c.65-8A>G
NM_138691.3(TMC1):c.663T>C (p.Tyr221=)
NM_138691.3(TMC1):c.666C>T (p.Gly222=)
NM_138691.3(TMC1):c.667_668insAACG (p.Ser223fs)
NM_138691.3(TMC1):c.684C>A (p.Thr228=)
NM_138691.3(TMC1):c.685G>A (p.Val229Ile)
NM_138691.3(TMC1):c.687T>C (p.Val229=)
NM_138691.3(TMC1):c.696del (p.Glu233fs)
NM_138691.3(TMC1):c.702G>A (p.Glu234=)
NM_138691.3(TMC1):c.717C>T (p.Asn239=)
NM_138691.3(TMC1):c.72G>A (p.Glu24=)
NM_138691.3(TMC1):c.732C>T (p.Tyr244=)
NM_138691.3(TMC1):c.735C>T (p.Asp245=)
NM_138691.3(TMC1):c.741+18A>G
NM_138691.3(TMC1):c.741+1G>A rs1588067173
NM_138691.3(TMC1):c.741+8T>A
NM_138691.3(TMC1):c.742-19C>A
NM_138691.3(TMC1):c.742-1G>A
NM_138691.3(TMC1):c.742-20G>A
NM_138691.3(TMC1):c.742-20G>T
NM_138691.3(TMC1):c.759C>T (p.Ser253=)
NM_138691.3(TMC1):c.761T>C (p.Val254Ala)
NM_138691.3(TMC1):c.765C>A (p.Leu255=)
NM_138691.3(TMC1):c.780T>C (p.Tyr260=)
NM_138691.3(TMC1):c.789A>G (p.Lys263=)
NM_138691.3(TMC1):c.78G>A (p.Glu26=)
NM_138691.3(TMC1):c.790C>T (p.Arg264Ter)
NM_138691.3(TMC1):c.800G>A (p.Gly267Glu)
NM_138691.3(TMC1):c.800G>T (p.Gly267Val)
NM_138691.3(TMC1):c.804G>A (p.Trp268Ter)
NM_138691.3(TMC1):c.814A>C (p.Arg272=)
NM_138691.3(TMC1):c.822G>T (p.Pro274=)
NM_138691.3(TMC1):c.828C>T (p.Ser276=)
NM_138691.3(TMC1):c.837A>G (p.Leu279=)
NM_138691.3(TMC1):c.843G>T (p.Gly281=)
NM_138691.3(TMC1):c.84G>A (p.Val28=)
NM_138691.3(TMC1):c.863_867delinsCATAATCAATACG (p.Ser288_Phe289delinsThrTer)
NM_138691.3(TMC1):c.873T>G (p.Val291=)
NM_138691.3(TMC1):c.879C>G (p.Leu293=)
NM_138691.3(TMC1):c.87A>G (p.Glu29=)
NM_138691.3(TMC1):c.884+12T>C
NM_138691.3(TMC1):c.884+15T>C
NM_138691.3(TMC1):c.884+19T>G
NM_138691.3(TMC1):c.884+9C>T
NM_138691.3(TMC1):c.885-17A>G
NM_138691.3(TMC1):c.885-8T>G
NM_138691.3(TMC1):c.885-9T>C
NM_138691.3(TMC1):c.897C>T (p.Asn299=)
NM_138691.3(TMC1):c.903_904dup (p.Asp302fs)
NM_138691.3(TMC1):c.924C>T (p.Asp308=)
NM_138691.3(TMC1):c.927C>T (p.Asn309=)
NM_138691.3(TMC1):c.932T>A (p.Phe311Tyr)
NM_138691.3(TMC1):c.935A>G (p.Asn312Ser)
NM_138691.3(TMC1):c.942C>T (p.Ser314=)
NM_138691.3(TMC1):c.94C>T (p.Leu32=)
NM_138691.3(TMC1):c.975C>T (p.Ile325=)
NM_138691.3(TMC1):c.991G>A (p.Ala331Thr) rs1470897776
NM_138691.3(TMC1):c.9C>T (p.Pro3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.