ClinVar Miner

List of variants in gene TMC8 reported as uncertain significance for hereditary skin disorder

Included ClinVar conditions (790):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_152468.5(TMC8):c.1982C>T (p.Pro661Leu) rs139972217 0.00364
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln) rs151076155 0.00158
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile) rs150546646 0.00073
NM_152468.5(TMC8):c.913C>T (p.Leu305Phe) rs149997470 0.00063
NM_152468.5(TMC8):c.1235A>G (p.Asn412Ser) rs772650292 0.00026
NM_152468.5(TMC8):c.1818G>A (p.Met606Ile) rs369040695 0.00019
NM_152468.5(TMC8):c.875C>T (p.Thr292Met) rs140623039 0.00013
NM_152468.5(TMC8):c.764G>A (p.Arg255Gln) rs150810138 0.00011
NM_152468.5(TMC8):c.865C>T (p.Arg289Trp) rs370405566 0.00011
NM_152468.5(TMC8):c.1360G>T (p.Asp454Tyr) rs142790683 0.00009
NM_152468.5(TMC8):c.605G>A (p.Arg202His) rs374504400 0.00009
NM_152468.5(TMC8):c.1103C>T (p.Thr368Met) rs137855965 0.00008
NM_152468.5(TMC8):c.1363C>T (p.Arg455Trp) rs560274584 0.00008
NM_152468.5(TMC8):c.1576C>T (p.Arg526Cys) rs199993214 0.00008
NM_152468.5(TMC8):c.461C>A (p.Pro154His) rs141101059 0.00008
NM_152468.5(TMC8):c.693G>C (p.Lys231Asn) rs376873435 0.00007
NM_152468.5(TMC8):c.1766G>A (p.Arg589His) rs535003756 0.00006
NM_152468.5(TMC8):c.1886G>T (p.Arg629Leu) rs369861947 0.00006
NM_152468.5(TMC8):c.563C>T (p.Ala188Val) rs748557129 0.00006
NM_152468.5(TMC8):c.1218T>G (p.Cys406Trp) rs753900323 0.00004
NM_152468.5(TMC8):c.1315G>A (p.Val439Met) rs370144998 0.00004
NM_152468.5(TMC8):c.1324G>A (p.Ala442Thr) rs144134870 0.00004
NM_152468.5(TMC8):c.1396C>T (p.Arg466Trp) rs149327841 0.00004
NM_152468.5(TMC8):c.1435G>A (p.Val479Met) rs771242674 0.00004
NM_152468.5(TMC8):c.1787C>G (p.Ser596Cys) rs780927655 0.00004
NM_152468.5(TMC8):c.1835C>T (p.Thr612Met) rs201296911 0.00004
NM_152468.5(TMC8):c.1885C>T (p.Arg629Trp) rs377668539 0.00004
NM_152468.5(TMC8):c.532-5C>G rs756103854 0.00004
NM_152468.5(TMC8):c.533C>A (p.Ala178Asp) rs138940132 0.00004
NM_152468.5(TMC8):c.592G>A (p.Val198Met) rs138026813 0.00004
NM_152468.5(TMC8):c.665G>A (p.Arg222Gln) rs779111855 0.00004
NM_152468.5(TMC8):c.901C>T (p.Arg301Trp) rs778554801 0.00004
NM_152468.5(TMC8):c.1556G>A (p.Arg519Lys) rs201514566 0.00003
NM_152468.5(TMC8):c.1637C>T (p.Ala546Val) rs1290549286 0.00003
NM_152468.5(TMC8):c.1687G>A (p.Gly563Ser) rs761173794 0.00003
NM_152468.5(TMC8):c.1735G>A (p.Val579Met) rs757215882 0.00003
NM_152468.5(TMC8):c.988G>A (p.Glu330Lys) rs769031304 0.00003
NM_152468.5(TMC8):c.1128-3C>G rs753333357 0.00002
NM_152468.5(TMC8):c.1206C>G (p.Asp402Glu) rs746051835 0.00002
NM_152468.5(TMC8):c.1397G>A (p.Arg466Gln) rs559358892 0.00002
NM_152468.5(TMC8):c.1765C>T (p.Arg589Cys) rs779822152 0.00002
NM_152468.5(TMC8):c.1792G>A (p.Ala598Thr) rs772823217 0.00002
NM_152468.5(TMC8):c.1876C>T (p.His626Tyr) rs369436673 0.00002
NM_152468.5(TMC8):c.1912G>T (p.Glu638Ter) rs373080751 0.00002
NM_152468.5(TMC8):c.487G>A (p.Val163Ile) rs753915057 0.00002
NM_152468.5(TMC8):c.503A>G (p.Asn168Ser) rs765373712 0.00002
NM_152468.5(TMC8):c.1033G>A (p.Ala345Thr) rs141819789 0.00001
NM_152468.5(TMC8):c.1186A>G (p.Ile396Val) rs149304896 0.00001
NM_152468.5(TMC8):c.1254C>G (p.Cys418Trp) rs542103664 0.00001
NM_152468.5(TMC8):c.1304T>G (p.Phe435Cys) rs2075271531 0.00001
NM_152468.5(TMC8):c.1405T>C (p.Phe469Leu) rs1371007530 0.00001
NM_152468.5(TMC8):c.1409T>G (p.Leu470Arg) rs1288376053 0.00001
NM_152468.5(TMC8):c.1411G>C (p.Val471Leu) rs747755714 0.00001
NM_152468.5(TMC8):c.1558G>A (p.Ala520Thr) rs865835847 0.00001
NM_152468.5(TMC8):c.1567C>T (p.Arg523Trp) rs147103093 0.00001
NM_152468.5(TMC8):c.1582T>C (p.Ser528Pro) rs1383156201 0.00001
NM_152468.5(TMC8):c.1589C>T (p.Ser530Phe) rs201607836 0.00001
NM_152468.5(TMC8):c.1615C>T (p.Leu539Phe) rs1351153068 0.00001
NM_152468.5(TMC8):c.1649G>A (p.Gly550Asp) rs1350592733 0.00001
NM_152468.5(TMC8):c.1843G>A (p.Val615Ile) rs571040732 0.00001
NM_152468.5(TMC8):c.1899del (p.Trp634fs) rs1444491172 0.00001
NM_152468.5(TMC8):c.1973C>T (p.Ser658Phe) rs1490535318 0.00001
NM_152468.5(TMC8):c.2039G>A (p.Cys680Tyr) rs1237055200 0.00001
NM_152468.5(TMC8):c.2073G>A (p.Pro691=) rs777580299 0.00001
NM_152468.5(TMC8):c.2083G>A (p.Val695Ile) rs752088229 0.00001
NM_152468.5(TMC8):c.2092G>A (p.Ala698Thr) rs781413576 0.00001
NM_152468.5(TMC8):c.2114G>T (p.Cys705Phe) rs749559253 0.00001
NM_152468.5(TMC8):c.421C>A (p.Pro141Thr) rs569507457 0.00001
NM_152468.5(TMC8):c.427C>A (p.Pro143Thr) rs1445609111 0.00001
NM_152468.5(TMC8):c.469C>T (p.Arg157Cys) rs762677074 0.00001
NM_152468.5(TMC8):c.495G>C (p.Arg165Ser) rs761860622 0.00001
NM_152468.5(TMC8):c.531+3G>A rs967787162 0.00001
NM_152468.5(TMC8):c.548A>G (p.Tyr183Cys) rs756858053 0.00001
NM_152468.5(TMC8):c.569G>A (p.Arg190Gln) rs766694820 0.00001
NM_152468.5(TMC8):c.604C>T (p.Arg202Cys) rs558832885 0.00001
NM_152468.5(TMC8):c.626C>T (p.Pro209Leu) rs760578642 0.00001
NM_152468.5(TMC8):c.667C>T (p.Arg223Trp) rs200991553 0.00001
NM_152468.5(TMC8):c.686C>T (p.Pro229Leu) rs773074189 0.00001
NM_152468.5(TMC8):c.746C>T (p.Ser249Leu) rs1213988715 0.00001
NM_152468.5(TMC8):c.801C>G (p.Ile267Met) rs767152216 0.00001
NM_152468.5(TMC8):c.822G>C (p.Glu274Asp) rs773623676 0.00001
NM_152468.5(TMC8):c.827A>G (p.Glu276Gly) rs751943470 0.00001
NM_152468.5(TMC8):c.868G>A (p.Ala290Thr) rs768411245 0.00001
NM_152468.5(TMC8):c.884G>A (p.Arg295His) rs373918852 0.00001
NM_152468.5(TMC8):c.938C>T (p.Ala313Val) rs375213113 0.00001
NM_152468.5(TMC8):c.968A>G (p.Tyr323Cys) rs530521432 0.00001
NM_152468.5(TMC8):c.1025G>T (p.Gly342Val)
NM_152468.5(TMC8):c.1065C>G (p.Phe355Leu) rs760559122
NM_152468.5(TMC8):c.1094C>T (p.Pro365Leu)
NM_152468.5(TMC8):c.1108G>A (p.Val370Ile)
NM_152468.5(TMC8):c.1117A>G (p.Thr373Ala)
NM_152468.5(TMC8):c.1155G>T (p.Leu385Phe)
NM_152468.5(TMC8):c.1168G>C (p.Val390Leu) rs150546646
NM_152468.5(TMC8):c.1192T>C (p.Cys398Arg)
NM_152468.5(TMC8):c.1195A>G (p.Ile399Val) rs2075258218
NM_152468.5(TMC8):c.1196T>C (p.Ile399Thr)
NM_152468.5(TMC8):c.1209G>C (p.Lys403Asn) rs76467743
NM_152468.5(TMC8):c.1225T>C (p.Tyr409His)
NM_152468.5(TMC8):c.1226A>C (p.Tyr409Ser)
NM_152468.5(TMC8):c.1234_1236del (p.Asn412del) rs2075259264
NM_152468.5(TMC8):c.1237G>A (p.Val413Ile) rs545052827
NM_152468.5(TMC8):c.1251+6T>C rs756485482
NM_152468.5(TMC8):c.1263C>G (p.Asn421Lys)
NM_152468.5(TMC8):c.1267G>A (p.Val423Met)
NM_152468.5(TMC8):c.1313C>T (p.Thr438Ile) rs2145705977
NM_152468.5(TMC8):c.1325C>T (p.Ala442Val) rs2075272237
NM_152468.5(TMC8):c.1328T>A (p.Phe443Tyr)
NM_152468.5(TMC8):c.1340T>A (p.Leu447Gln) rs2145706305
NM_152468.5(TMC8):c.1375C>G (p.Arg459Gly)
NM_152468.5(TMC8):c.1375C>T (p.Arg459Trp) rs764442700
NM_152468.5(TMC8):c.1376G>A (p.Arg459Gln)
NM_152468.5(TMC8):c.1402_1403delinsTT (p.Glu468Leu) rs2075281016
NM_152468.5(TMC8):c.1407C>A (p.Phe469Leu) rs528085214
NM_152468.5(TMC8):c.1418A>C (p.Lys473Thr) rs1053461998
NM_152468.5(TMC8):c.1418A>G (p.Lys473Arg)
NM_152468.5(TMC8):c.1432A>G (p.Ile478Val) rs2075281876
NM_152468.5(TMC8):c.1439C>A (p.Ala480Glu)
NM_152468.5(TMC8):c.1449_1450delinsCT (p.Val484Phe) rs2145710563
NM_152468.5(TMC8):c.1552_1554del (p.Ser518del) rs2075290050
NM_152468.5(TMC8):c.1568G>A (p.Arg523Gln) rs756911102
NM_152468.5(TMC8):c.1594TTC[2] (p.Phe534del) rs1176579021
NM_152468.5(TMC8):c.1665-8C>G rs1598923439
NM_152468.5(TMC8):c.1667T>A (p.Ile556Asn) rs1019271604
NM_152468.5(TMC8):c.1673C>T (p.Ser558Phe) rs563497141
NM_152468.5(TMC8):c.1700A>G (p.Asn567Ser) rs2075296638
NM_152468.5(TMC8):c.1708G>T (p.Ala570Ser) rs1225829294
NM_152468.5(TMC8):c.1727C>T (p.Pro576Leu)
NM_152468.5(TMC8):c.1793C>A (p.Ala598Asp) rs137975524
NM_152468.5(TMC8):c.1810C>T (p.Leu604Phe)
NM_152468.5(TMC8):c.1823G>A (p.Ser608Asn) rs775574215
NM_152468.5(TMC8):c.1842C>T (p.Cys614=)
NM_152468.5(TMC8):c.1853C>A (p.Thr618Asn) rs2075312611
NM_152468.5(TMC8):c.1883T>C (p.Leu628Pro) rs2145722630
NM_152468.5(TMC8):c.1886G>A (p.Arg629Gln) rs369861947
NM_152468.5(TMC8):c.1912G>A (p.Glu638Lys) rs373080751
NM_152468.5(TMC8):c.1952C>T (p.Pro651Leu)
NM_152468.5(TMC8):c.1976C>T (p.Pro659Leu)
NM_152468.5(TMC8):c.2078C>T (p.Pro693Leu)
NM_152468.5(TMC8):c.2104C>T (p.Arg702Cys) rs1461595373
NM_152468.5(TMC8):c.2105G>A (p.Arg702His) rs2075363469
NM_152468.5(TMC8):c.2120G>A (p.Gly707Glu) rs1434316891
NM_152468.5(TMC8):c.2132C>T (p.Ala711Val)
NM_152468.5(TMC8):c.2143G>T (p.Ala715Ser)
NM_152468.5(TMC8):c.2147G>A (p.Arg716His)
NM_152468.5(TMC8):c.2156G>A (p.Arg719His)
NM_152468.5(TMC8):c.2161C>G (p.Pro721Ala) rs1187732896
NM_152468.5(TMC8):c.428C>T (p.Pro143Leu) rs2145599140
NM_152468.5(TMC8):c.433C>T (p.Pro145Ser)
NM_152468.5(TMC8):c.448+3G>A
NM_152468.5(TMC8):c.449C>T (p.Thr150Ile) rs1001723568
NM_152468.5(TMC8):c.505C>A (p.Gln169Lys) rs2145611174
NM_152468.5(TMC8):c.531+5G>A rs1568015382
NM_152468.5(TMC8):c.533C>G (p.Ala178Gly) rs138940132
NM_152468.5(TMC8):c.537C>G (p.Phe179Leu) rs748873052
NM_152468.5(TMC8):c.557A>G (p.Tyr186Cys)
NM_152468.5(TMC8):c.560G>A (p.Gly187Asp)
NM_152468.5(TMC8):c.592G>C (p.Val198Leu)
NM_152468.5(TMC8):c.602T>C (p.Ile201Thr) rs781390676
NM_152468.5(TMC8):c.616C>G (p.Leu206Val) rs759778569
NM_152468.5(TMC8):c.616C>T (p.Leu206Phe) rs759778569
NM_152468.5(TMC8):c.622_642dup (p.Leu214_Leu215insSerProLeuAlaCysLeuLeu)
NM_152468.5(TMC8):c.668+5_668+6delinsAC rs1568016780
NM_152468.5(TMC8):c.669G>T (p.Arg223=)
NM_152468.5(TMC8):c.704G>C (p.Gly235Ala)
NM_152468.5(TMC8):c.719C>T (p.Ala240Val) rs757640069
NM_152468.5(TMC8):c.724C>G (p.Leu242Val) rs2145644826
NM_152468.5(TMC8):c.736G>C (p.Val246Leu) rs373643486
NM_152468.5(TMC8):c.748T>C (p.Trp250Arg) rs2145645141
NM_152468.5(TMC8):c.772G>A (p.Glu258Lys) rs2075131794
NM_152468.5(TMC8):c.817-6G>A rs377044337
NM_152468.5(TMC8):c.835C>G (p.Arg279Gly) rs767535431
NM_152468.5(TMC8):c.836G>A (p.Arg279His) rs372510006
NM_152468.5(TMC8):c.838C>T (p.Arg280Cys)
NM_152468.5(TMC8):c.839G>A (p.Arg280His)
NM_152468.5(TMC8):c.859C>G (p.Gln287Glu)
NM_152468.5(TMC8):c.875C>A (p.Thr292Lys) rs140623039
NM_152468.5(TMC8):c.883C>G (p.Arg295Gly)
NM_152468.5(TMC8):c.890T>C (p.Leu297Pro)
NM_152468.5(TMC8):c.899T>A (p.Leu300Gln) rs2145662736
NM_152468.5(TMC8):c.902G>C (p.Arg301Pro)
NM_152468.5(TMC8):c.922C>T (p.Leu308Phe)
NM_152468.5(TMC8):c.931G>T (p.Val311Phe)
NM_152468.5(TMC8):c.941T>C (p.Ile314Thr) rs2075166863
NM_152468.5(TMC8):c.946G>A (p.Ala316Thr)
NM_152468.5(TMC8):c.949A>G (p.Ile317Val) rs1179647988
NM_152468.5(TMC8):c.961A>G (p.Thr321Ala)
NM_152468.5(TMC8):c.966G>T (p.Lys322Asn) rs2075167796
NM_152468.5(TMC8):c.976G>C (p.Asp326His) rs2145663991
NM_152468.5(TMC8):c.987+9C>T rs543909170

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