ClinVar Miner

List of variants in gene TMC6 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 280
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HGVS dbSNP gnomAD frequency
NM_001127198.5(TMC6):c.1139C>T (p.Ala380Val) rs147856997 0.00308
NM_001127198.5(TMC6):c.1748G>A (p.Arg583Gln) rs147815166 0.00143
NM_001127198.5(TMC6):c.2384C>T (p.Pro795Leu) rs140852551 0.00140
NM_001127198.5(TMC6):c.315G>A (p.Thr105=) rs139557408 0.00125
NM_001127198.5(TMC6):c.986C>T (p.Thr329Ile) rs143662903 0.00121
NM_001127198.5(TMC6):c.272-16C>G rs369244849 0.00091
NM_001127198.5(TMC6):c.369C>T (p.Ser123=) rs142758270 0.00064
NM_001127198.5(TMC6):c.1237G>C (p.Ala413Pro) rs555453763 0.00047
NM_001127198.5(TMC6):c.2355-9T>C rs78046548 0.00047
NM_001127198.5(TMC6):c.536+14del rs544848558 0.00045
NM_001127198.5(TMC6):c.847G>A (p.Gly283Ser) rs201267987 0.00044
NM_001127198.5(TMC6):c.2172T>C (p.Phe724=) rs139010324 0.00040
NM_001127198.5(TMC6):c.759G>C (p.Lys253Asn) rs554669051 0.00036
NM_001127198.5(TMC6):c.634-4G>A rs376851783 0.00035
NM_001127198.5(TMC6):c.1347C>T (p.Ala449=) rs142253928 0.00034
NM_001127198.5(TMC6):c.687G>A (p.Pro229=) rs369185930 0.00034
NM_001127198.5(TMC6):c.1715+17C>T rs375990147 0.00024
NM_001127198.5(TMC6):c.1992C>T (p.Ala664=) rs369452848 0.00024
NM_001127198.5(TMC6):c.2355-8T>C rs200477839 0.00022
NM_001127198.5(TMC6):c.1071C>T (p.Thr357=) rs147648259 0.00021
NM_001127198.5(TMC6):c.1746G>A (p.Arg582=) rs370625898 0.00021
NM_001127198.5(TMC6):c.135G>A (p.Thr45=) rs150974387 0.00019
NM_001127198.5(TMC6):c.2199-20C>T rs376036264 0.00016
NM_001127198.5(TMC6):c.310C>T (p.Arg104Cys) rs117065924 0.00016
NM_001127198.5(TMC6):c.1384-11C>T rs188505445 0.00014
NM_001127198.5(TMC6):c.1509A>G (p.Val503=) rs74950907 0.00013
NM_001127198.5(TMC6):c.954G>A (p.Pro318=) rs201966081 0.00013
NM_001127198.5(TMC6):c.536+12C>T rs528902960 0.00012
NM_001127198.5(TMC6):c.2325C>T (p.Tyr775=) rs370394664 0.00011
NM_001127198.5(TMC6):c.2359G>A (p.Gly787Arg) rs769161987 0.00011
NM_001127198.5(TMC6):c.414G>A (p.Thr138=) rs778886513 0.00011
NM_001127198.5(TMC6):c.686C>T (p.Pro229Leu) rs749326103 0.00010
NM_001127198.5(TMC6):c.271+7G>A rs371112328 0.00009
NM_001127198.5(TMC6):c.48G>A (p.Gly16=) rs199831098 0.00009
NM_001127198.5(TMC6):c.1368G>A (p.Ser456=) rs781005432 0.00008
NM_001127198.5(TMC6):c.825C>T (p.Val275=) rs372486202 0.00008
NM_001127198.5(TMC6):c.2354+20T>C rs372511568 0.00007
NM_001127198.5(TMC6):c.1344C>T (p.Cys448=) rs146404867 0.00006
NM_001127198.5(TMC6):c.1888-18C>T rs200067690 0.00006
NM_001127198.5(TMC6):c.2079C>T (p.Ala693=) rs756312475 0.00006
NM_001127198.5(TMC6):c.2198+9C>T rs201758709 0.00006
NM_001127198.5(TMC6):c.288C>T (p.Ala96=) rs765510635 0.00006
NM_001127198.5(TMC6):c.732C>T (p.Ser244=) rs368193907 0.00006
NM_001127198.5(TMC6):c.84C>T (p.Ser28=) rs769381609 0.00006
NM_001127198.5(TMC6):c.1443C>T (p.Leu481=) rs753893921 0.00005
NM_001127198.5(TMC6):c.1716-9C>T rs200205731 0.00005
NM_001127198.5(TMC6):c.526C>T (p.Arg176Cys) rs112743475 0.00005
NM_001127198.5(TMC6):c.1122C>T (p.Ser374=) rs111339661 0.00004
NM_001127198.5(TMC6):c.1176G>A (p.Thr392=) rs139523538 0.00004
NM_001127198.5(TMC6):c.1228-9C>T rs538258694 0.00004
NM_001127198.5(TMC6):c.1506G>A (p.Pro502=) rs752663338 0.00004
NM_001127198.5(TMC6):c.1535+10C>T rs546888861 0.00004
NM_001127198.5(TMC6):c.1536-17C>T rs748419745 0.00004
NM_001127198.5(TMC6):c.228G>A (p.Thr76=) rs368129497 0.00004
NM_001127198.5(TMC6):c.2299T>C (p.Leu767=) rs778567720 0.00004
NM_001127198.5(TMC6):c.2354+18G>C rs769832479 0.00004
NM_001127198.5(TMC6):c.477A>C (p.Ala159=) rs111993532 0.00004
NM_001127198.5(TMC6):c.696C>T (p.Tyr232=) rs375113408 0.00004
NM_001127198.5(TMC6):c.1383+10dup rs1555655088 0.00003
NM_001127198.5(TMC6):c.1521C>T (p.Tyr507=) rs552965413 0.00003
NM_001127198.5(TMC6):c.2010C>T (p.Tyr670=) rs144712080 0.00003
NM_001127198.5(TMC6):c.2022-16T>A rs757038262 0.00003
NM_001127198.5(TMC6):c.2354+11G>A rs775536058 0.00003
NM_001127198.5(TMC6):c.2355-7C>T rs761893025 0.00003
NM_001127198.5(TMC6):c.333G>A (p.Arg111=) rs371892251 0.00003
NM_001127198.5(TMC6):c.351C>T (p.Leu117=) rs545056582 0.00003
NM_001127198.5(TMC6):c.532C>T (p.Leu178=) rs199607800 0.00003
NM_001127198.5(TMC6):c.536+13G>A rs560122149 0.00003
NM_001127198.5(TMC6):c.57-4G>A rs757768193 0.00003
NM_001127198.5(TMC6):c.6C>T (p.Ala2=) rs748822086 0.00003
NM_001127198.5(TMC6):c.1044C>G (p.Gly348=) rs749106566 0.00002
NM_001127198.5(TMC6):c.1098C>T (p.Phe366=) rs767211384 0.00002
NM_001127198.5(TMC6):c.1338G>A (p.Leu446=) rs1272445736 0.00002
NM_001127198.5(TMC6):c.1962G>T (p.Thr654=) rs140188188 0.00002
NM_001127198.5(TMC6):c.390G>A (p.Leu130=) rs374895971 0.00002
NM_001127198.5(TMC6):c.75T>C (p.Tyr25=) rs149732983 0.00002
NM_001127198.5(TMC6):c.909C>T (p.Thr303=) rs554914997 0.00002
NM_001127198.5(TMC6):c.1137C>T (p.His379=) rs747182769 0.00001
NM_001127198.5(TMC6):c.1269C>T (p.Ser423=) rs768939571 0.00001
NM_001127198.5(TMC6):c.1383+10T>G rs1292409538 0.00001
NM_001127198.5(TMC6):c.1384-5T>C rs1352176419 0.00001
NM_001127198.5(TMC6):c.1384-9C>T rs1224027213 0.00001
NM_001127198.5(TMC6):c.1477C>T (p.Leu493=) rs1366602184 0.00001
NM_001127198.5(TMC6):c.150G>A (p.Leu50=) rs756590153 0.00001
NM_001127198.5(TMC6):c.1530C>T (p.Ile510=) rs376404481 0.00001
NM_001127198.5(TMC6):c.1536-10C>T rs758762407 0.00001
NM_001127198.5(TMC6):c.1596G>A (p.Arg532=) rs776900537 0.00001
NM_001127198.5(TMC6):c.1608G>A (p.Leu536=) rs141464477 0.00001
NM_001127198.5(TMC6):c.1692G>C (p.Thr564=) rs772083222 0.00001
NM_001127198.5(TMC6):c.1715+18G>A rs778830451 0.00001
NM_001127198.5(TMC6):c.1830G>A (p.Ser610=) rs761394043 0.00001
NM_001127198.5(TMC6):c.1836C>T (p.Leu612=) rs764153856 0.00001
NM_001127198.5(TMC6):c.1888-17G>A rs377114971 0.00001
NM_001127198.5(TMC6):c.1917G>A (p.Pro639=) rs762795813 0.00001
NM_001127198.5(TMC6):c.2022-4C>A rs1390522522 0.00001
NM_001127198.5(TMC6):c.2022-5C>T rs540761329 0.00001
NM_001127198.5(TMC6):c.2034G>C (p.Ser678=) rs1264475530 0.00001
NM_001127198.5(TMC6):c.2073C>T (p.Tyr691=) rs200294759 0.00001
NM_001127198.5(TMC6):c.210C>T (p.Pro70=) rs759388651 0.00001
NM_001127198.5(TMC6):c.2199-14C>T rs372720368 0.00001
NM_001127198.5(TMC6):c.2199-4G>A rs533466569 0.00001
NM_001127198.5(TMC6):c.2254C>T (p.Leu752=) rs765889967 0.00001
NM_001127198.5(TMC6):c.2278-6T>G rs1225177306 0.00001
NM_001127198.5(TMC6):c.2354+13G>A rs1450507055 0.00001
NM_001127198.5(TMC6):c.2367C>T (p.Thr789=) rs747353503 0.00001
NM_001127198.5(TMC6):c.271+16A>G rs1426290100 0.00001
NM_001127198.5(TMC6):c.272-6C>T rs1192215435 0.00001
NM_001127198.5(TMC6):c.312C>T (p.Arg104=) rs747061600 0.00001
NM_001127198.5(TMC6):c.420G>A (p.Leu140=) rs1166251158 0.00001
NM_001127198.5(TMC6):c.431-10C>T rs778781842 0.00001
NM_001127198.5(TMC6):c.431-11C>T rs745349925 0.00001
NM_001127198.5(TMC6):c.513C>T (p.Ser171=) rs150547279 0.00001
NM_001127198.5(TMC6):c.534G>A (p.Leu178=) rs1424809660 0.00001
NM_001127198.5(TMC6):c.56+7G>A rs763009933 0.00001
NM_001127198.5(TMC6):c.57-17dup rs763325937 0.00001
NM_001127198.5(TMC6):c.634-5C>T rs370071234 0.00001
NM_001127198.5(TMC6):c.646C>T (p.Leu216=) rs1343201208 0.00001
NM_001127198.5(TMC6):c.672G>A (p.Leu224=) rs1381480736 0.00001
NM_001127198.5(TMC6):c.723C>T (p.Phe241=) rs771048716 0.00001
NM_001127198.5(TMC6):c.774C>T (p.Phe258=) rs756800994 0.00001
NM_001127198.5(TMC6):c.780C>T (p.Ala260=) rs1458785435 0.00001
NM_001127198.5(TMC6):c.790C>T (p.Leu264=) rs1450351053 0.00001
NM_001127198.5(TMC6):c.936C>T (p.Asn312=) rs774723223 0.00001
NM_001127198.5(TMC6):c.1021C>T (p.Leu341=) rs1048105388
NM_001127198.5(TMC6):c.1047G>A (p.Val349=) rs2145325403
NM_001127198.5(TMC6):c.1072C>T (p.Leu358=)
NM_001127198.5(TMC6):c.1077G>A (p.Val359=)
NM_001127198.5(TMC6):c.1082+8C>T
NM_001127198.5(TMC6):c.1092C>T (p.His364=)
NM_001127198.5(TMC6):c.1167C>T (p.Tyr389=)
NM_001127198.5(TMC6):c.1188C>T (p.Ala396=) rs745973954
NM_001127198.5(TMC6):c.1228-15C>T
NM_001127198.5(TMC6):c.1239C>T (p.Ala413=)
NM_001127198.5(TMC6):c.1257C>T (p.His419=) rs1305591682
NM_001127198.5(TMC6):c.1293G>A (p.Ala431=) rs987312855
NM_001127198.5(TMC6):c.1293G>T (p.Ala431=)
NM_001127198.5(TMC6):c.1308T>C (p.Leu436=)
NM_001127198.5(TMC6):c.1324C>T (p.Leu442=)
NM_001127198.5(TMC6):c.1329G>T (p.Gly443=)
NM_001127198.5(TMC6):c.1335G>T (p.Ala445=)
NM_001127198.5(TMC6):c.1353C>T (p.Ala451=)
NM_001127198.5(TMC6):c.1359C>T (p.His453=)
NM_001127198.5(TMC6):c.1365C>T (p.Phe455=) rs375342516
NM_001127198.5(TMC6):c.1383+11G>A rs562533482
NM_001127198.5(TMC6):c.1383+11G>C rs562533482
NM_001127198.5(TMC6):c.1383+11G>T
NM_001127198.5(TMC6):c.1384-14C>T
NM_001127198.5(TMC6):c.141G>A (p.Gln47=)
NM_001127198.5(TMC6):c.1422C>T (p.Val474=)
NM_001127198.5(TMC6):c.1485C>G (p.Ala495=) rs548965077
NM_001127198.5(TMC6):c.1494G>C (p.Pro498=)
NM_001127198.5(TMC6):c.1497T>C (p.His499=) rs2145206731
NM_001127198.5(TMC6):c.1503C>T (p.Ser501=)
NM_001127198.5(TMC6):c.150G>C (p.Leu50=)
NM_001127198.5(TMC6):c.1510C>T (p.Leu504=)
NM_001127198.5(TMC6):c.1535+11G>A
NM_001127198.5(TMC6):c.1535+11G>T
NM_001127198.5(TMC6):c.1535+9C>T
NM_001127198.5(TMC6):c.1536-11G>A rs367991714
NM_001127198.5(TMC6):c.1536-12C>T
NM_001127198.5(TMC6):c.1566G>A (p.Gly522=)
NM_001127198.5(TMC6):c.1566G>T (p.Gly522=)
NM_001127198.5(TMC6):c.1575C>T (p.Cys525=) rs2145198203
NM_001127198.5(TMC6):c.1602C>T (p.Gly534=)
NM_001127198.5(TMC6):c.1605C>A (p.Val535=) rs201479637
NM_001127198.5(TMC6):c.1605C>G (p.Val535=)
NM_001127198.5(TMC6):c.1671C>T (p.Phe557=)
NM_001127198.5(TMC6):c.1715+8G>A rs1262568463
NM_001127198.5(TMC6):c.1715+8G>T
NM_001127198.5(TMC6):c.1716-15G>A rs1380025338
NM_001127198.5(TMC6):c.1716-17G>A
NM_001127198.5(TMC6):c.1716-17G>C
NM_001127198.5(TMC6):c.1716-18C>T
NM_001127198.5(TMC6):c.1716-4G>T
NM_001127198.5(TMC6):c.1716-8G>C
NM_001127198.5(TMC6):c.1725C>T (p.Ser575=)
NM_001127198.5(TMC6):c.1755G>A (p.Pro585=)
NM_001127198.5(TMC6):c.181+11G>A
NM_001127198.5(TMC6):c.181+8C>A
NM_001127198.5(TMC6):c.1811+13T>G
NM_001127198.5(TMC6):c.1811+15C>T
NM_001127198.5(TMC6):c.1811+7G>T rs2074289948
NM_001127198.5(TMC6):c.1812-10C>G
NM_001127198.5(TMC6):c.1812-8C>T
NM_001127198.5(TMC6):c.182-6T>C
NM_001127198.5(TMC6):c.1845C>T (p.Ala615=)
NM_001127198.5(TMC6):c.1863G>A (p.Leu621=)
NM_001127198.5(TMC6):c.1869C>T (p.Leu623=)
NM_001127198.5(TMC6):c.1887+10_1887+34del
NM_001127198.5(TMC6):c.1887+16C>T rs756814867
NM_001127198.5(TMC6):c.1887+17C>T
NM_001127198.5(TMC6):c.1902C>T (p.Ala634=)
NM_001127198.5(TMC6):c.1914G>A (p.Ala638=)
NM_001127198.5(TMC6):c.1914G>C (p.Ala638=) rs751492239
NM_001127198.5(TMC6):c.1950C>G (p.Thr650=)
NM_001127198.5(TMC6):c.1977C>T (p.Pro659=)
NM_001127198.5(TMC6):c.1980C>T (p.Ala660=) rs1019287801
NM_001127198.5(TMC6):c.1989C>T (p.Gly663=)
NM_001127198.5(TMC6):c.2013C>A (p.Ala671=) rs764142885
NM_001127198.5(TMC6):c.201C>T (p.Leu67=)
NM_001127198.5(TMC6):c.2021+10G>A
NM_001127198.5(TMC6):c.2021+12G>A
NM_001127198.5(TMC6):c.2021+14G>A
NM_001127198.5(TMC6):c.2037C>T (p.Ser679=)
NM_001127198.5(TMC6):c.2043C>T (p.Cys681=)
NM_001127198.5(TMC6):c.2067C>T (p.Thr689=)
NM_001127198.5(TMC6):c.2109G>A (p.Ala703=)
NM_001127198.5(TMC6):c.2119A>C (p.Arg707=)
NM_001127198.5(TMC6):c.2127C>T (p.Ser709=)
NM_001127198.5(TMC6):c.213G>A (p.Glu71=) rs2145415894
NM_001127198.5(TMC6):c.2178C>T (p.Phe726=) rs1427185110
NM_001127198.5(TMC6):c.2184G>T (p.Val728=) rs2145069524
NM_001127198.5(TMC6):c.2198+16G>C
NM_001127198.5(TMC6):c.2198+16G>T
NM_001127198.5(TMC6):c.2199-11C>A rs2074176098
NM_001127198.5(TMC6):c.2199-11C>G
NM_001127198.5(TMC6):c.2199-14C>A
NM_001127198.5(TMC6):c.2199-19G>A
NM_001127198.5(TMC6):c.2199-20C>G
NM_001127198.5(TMC6):c.2199-5C>T rs370571978
NM_001127198.5(TMC6):c.2202C>T (p.Ala734=)
NM_001127198.5(TMC6):c.2247C>T (p.Val749=)
NM_001127198.5(TMC6):c.2277+11C>T
NM_001127198.5(TMC6):c.2277+9C>T
NM_001127198.5(TMC6):c.2278-8C>T
NM_001127198.5(TMC6):c.2280G>A (p.Glu760=)
NM_001127198.5(TMC6):c.2307C>T (p.Asn769=)
NM_001127198.5(TMC6):c.2354+11G>C
NM_001127198.5(TMC6):c.2355-20G>A
NM_001127198.5(TMC6):c.2361G>A (p.Gly787=) rs968133755
NM_001127198.5(TMC6):c.243C>T (p.Ile81=) rs777740333
NM_001127198.5(TMC6):c.271+13C>G
NM_001127198.5(TMC6):c.271+16_271+21del
NM_001127198.5(TMC6):c.271+19C>T
NM_001127198.5(TMC6):c.272-29GGCCC[3] rs1263412231
NM_001127198.5(TMC6):c.272-4A>C
NM_001127198.5(TMC6):c.272-4A>G
NM_001127198.5(TMC6):c.280C>A (p.Arg94=) rs121908327
NM_001127198.5(TMC6):c.294C>T (p.Ile98=) rs1598873738
NM_001127198.5(TMC6):c.351C>G (p.Leu117=)
NM_001127198.5(TMC6):c.363C>T (p.Val121=)
NM_001127198.5(TMC6):c.430+15A>G
NM_001127198.5(TMC6):c.431-15C>T
NM_001127198.5(TMC6):c.431-20C>T
NM_001127198.5(TMC6):c.431-4G>A rs760569150
NM_001127198.5(TMC6):c.431-5C>T
NM_001127198.5(TMC6):c.431-7C>T rs919029138
NM_001127198.5(TMC6):c.475G>A (p.Ala159Thr) rs571041354
NM_001127198.5(TMC6):c.480G>A (p.Gln160=) rs2145370917
NM_001127198.5(TMC6):c.498C>T (p.Arg166=)
NM_001127198.5(TMC6):c.507C>G (p.Pro169=)
NM_001127198.5(TMC6):c.536+12C>G rs528902960
NM_001127198.5(TMC6):c.536+16C>A
NM_001127198.5(TMC6):c.536+9C>A rs749194096
NM_001127198.5(TMC6):c.54G>A (p.Gln18=)
NM_001127198.5(TMC6):c.56+14G>A
NM_001127198.5(TMC6):c.57-10C>T
NM_001127198.5(TMC6):c.57-15C>A rs2145424391
NM_001127198.5(TMC6):c.57-15C>G
NM_001127198.5(TMC6):c.57-17G>A rs369674592
NM_001127198.5(TMC6):c.57-18C>G
NM_001127198.5(TMC6):c.57-19C>G
NM_001127198.5(TMC6):c.57-6C>A
NM_001127198.5(TMC6):c.660G>A (p.Leu220=)
NM_001127198.5(TMC6):c.702G>A (p.Leu234=)
NM_001127198.5(TMC6):c.704A>G (p.Lys235Arg) rs80354176
NM_001127198.5(TMC6):c.711C>T (p.Ile237=)
NM_001127198.5(TMC6):c.756C>G (p.Leu252=) rs2074604295
NM_001127198.5(TMC6):c.786G>A (p.Leu262=) rs752678320
NM_001127198.5(TMC6):c.798G>C (p.Leu266=)
NM_001127198.5(TMC6):c.831C>T (p.Phe277=)
NM_001127198.5(TMC6):c.837C>T (p.Pro279=)
NM_001127198.5(TMC6):c.876G>A (p.Glu292=)
NM_001127198.5(TMC6):c.891+12C>T
NM_001127198.5(TMC6):c.891+19T>A
NM_001127198.5(TMC6):c.892-8T>C
NM_001127198.5(TMC6):c.894T>C (p.Gly298=)
NM_001127198.5(TMC6):c.921C>T (p.Tyr307=)
NM_001127198.5(TMC6):c.942G>A (p.Thr314=)
NM_001127198.5(TMC6):c.954G>T (p.Pro318=) rs201966081

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