ClinVar Miner

List of variants in gene TMC8 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: 168
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HGVS dbSNP gnomAD frequency
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln) rs151076155 0.00158
NM_152468.5(TMC8):c.1725C>T (p.Val575=) rs141186150 0.00116
NM_152468.5(TMC8):c.1462G>A (p.Gly488Ser) rs139756868 0.00108
NM_152468.5(TMC8):c.660T>C (p.Thr220=) rs144040084 0.00103
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile) rs150546646 0.00073
NM_152468.5(TMC8):c.1641G>T (p.Val547=) rs143014388 0.00046
NM_152468.5(TMC8):c.532-18C>G rs368431392 0.00023
NM_152468.5(TMC8):c.1962C>T (p.Gly654=) rs61746569 0.00021
NM_152468.5(TMC8):c.531+20G>C rs373321007 0.00021
NM_152468.5(TMC8):c.1577G>A (p.Arg526His) rs201477740 0.00016
NM_152468.5(TMC8):c.1967G>A (p.Ser656Asn) rs755057465 0.00015
NM_152468.5(TMC8):c.448+19A>G rs199710616 0.00015
NM_152468.5(TMC8):c.1266C>T (p.Ser422=) rs375990572 0.00014
NM_152468.5(TMC8):c.1608A>G (p.Leu536=) rs749501955 0.00011
NM_152468.5(TMC8):c.1237G>T (p.Val413Phe) rs545052827 0.00010
NM_152468.5(TMC8):c.1566G>A (p.Ser522=) rs763625834 0.00009
NM_152468.5(TMC8):c.1349+10G>A rs374997313 0.00008
NM_152468.5(TMC8):c.816+10C>T rs200435949 0.00008
NM_152468.5(TMC8):c.1823+17G>A rs568466050 0.00007
NM_152468.5(TMC8):c.450C>T (p.Thr150=) rs371997832 0.00007
NM_152468.5(TMC8):c.1128-6C>T rs1002758195 0.00006
NM_152468.5(TMC8):c.1560A>T (p.Ala520=) rs374622085 0.00006
NM_152468.5(TMC8):c.1791C>T (p.His597=) rs748151582 0.00006
NM_152468.5(TMC8):c.444C>T (p.Asn148=) rs147653480 0.00005
NM_152468.5(TMC8):c.1251+14C>T rs369834364 0.00004
NM_152468.5(TMC8):c.1926G>A (p.Leu642=) rs199601857 0.00004
NM_152468.5(TMC8):c.591C>T (p.Ser197=) rs374725932 0.00004
NM_152468.5(TMC8):c.669-5C>T rs376261689 0.00004
NM_152468.5(TMC8):c.1251+15G>A rs779027509 0.00003
NM_152468.5(TMC8):c.1323C>T (p.Phe441=) rs529856329 0.00003
NM_152468.5(TMC8):c.1620G>A (p.Leu540=) rs371811521 0.00003
NM_152468.5(TMC8):c.1977G>A (p.Pro659=) rs752384754 0.00003
NM_152468.5(TMC8):c.720G>A (p.Ala240=) rs369500092 0.00003
NM_152468.5(TMC8):c.988-5C>T rs756954531 0.00003
NM_152468.5(TMC8):c.1104G>A (p.Thr368=) rs748642267 0.00002
NM_152468.5(TMC8):c.1128-12C>G rs1028347154 0.00002
NM_152468.5(TMC8):c.1534-8G>A rs367807381 0.00002
NM_152468.5(TMC8):c.448+10A>C rs1015069094 0.00002
NM_152468.5(TMC8):c.532-6C>T rs374762240 0.00002
NM_152468.5(TMC8):c.558C>T (p.Tyr186=) rs142724783 0.00002
NM_152468.5(TMC8):c.987+14G>A rs747730064 0.00002
NM_152468.5(TMC8):c.1167C>T (p.Ser389=) rs750054783 0.00001
NM_152468.5(TMC8):c.1191G>A (p.Leu397=) rs749826886 0.00001
NM_152468.5(TMC8):c.1227C>T (p.Tyr409=) rs139428432 0.00001
NM_152468.5(TMC8):c.1236C>T (p.Asn412=) rs376601283 0.00001
NM_152468.5(TMC8):c.1269G>T (p.Val423=) rs376603334 0.00001
NM_152468.5(TMC8):c.1349+11G>C rs751680660 0.00001
NM_152468.5(TMC8):c.1404G>A (p.Glu468=) rs746600332 0.00001
NM_152468.5(TMC8):c.1410G>C (p.Leu470=) rs780836109 0.00001
NM_152468.5(TMC8):c.1434C>T (p.Ile478=) rs200178045 0.00001
NM_152468.5(TMC8):c.1446G>A (p.Gln482=) rs1474266153 0.00001
NM_152468.5(TMC8):c.1534-19C>T rs1436320984 0.00001
NM_152468.5(TMC8):c.1728G>A (p.Pro576=) rs753149174 0.00001
NM_152468.5(TMC8):c.1989C>T (p.Tyr663=) rs748982537 0.00001
NM_152468.5(TMC8):c.2025C>T (p.Cys675=) rs1317809271 0.00001
NM_152468.5(TMC8):c.2085C>A (p.Val695=) rs746193490 0.00001
NM_152468.5(TMC8):c.448+12G>A rs764845681 0.00001
NM_152468.5(TMC8):c.532-10C>T rs1310971439 0.00001
NM_152468.5(TMC8):c.597C>T (p.Tyr199=) rs758070362 0.00001
NM_152468.5(TMC8):c.657G>A (p.Gly219=) rs778004554 0.00001
NM_152468.5(TMC8):c.668+9G>A rs775725820 0.00001
NM_152468.5(TMC8):c.687G>A (p.Pro229=) rs1255781339 0.00001
NM_152468.5(TMC8):c.807C>T (p.Asn269=) rs773877370 0.00001
NM_152468.5(TMC8):c.828G>A (p.Glu276=) rs760065246 0.00001
NM_152468.5(TMC8):c.876G>A (p.Thr292=) rs760013930 0.00001
NM_152468.5(TMC8):c.886C>T (p.Leu296=) rs1193497847 0.00001
NM_152468.5(TMC8):c.1014C>T (p.Tyr338=)
NM_152468.5(TMC8):c.1017G>C (p.Leu339=)
NM_152468.5(TMC8):c.1020C>T (p.Pro340=)
NM_152468.5(TMC8):c.1029C>T (p.Val343=)
NM_152468.5(TMC8):c.1032C>T (p.Ile344=)
NM_152468.5(TMC8):c.1059G>A (p.Leu353=) rs2145670458
NM_152468.5(TMC8):c.1127+11C>T rs2075185800
NM_152468.5(TMC8):c.1127+16G>C rs2145671706
NM_152468.5(TMC8):c.1127+18dup
NM_152468.5(TMC8):c.1128-8G>T
NM_152468.5(TMC8):c.1149C>T (p.Ala383=) rs2145699565
NM_152468.5(TMC8):c.1251+16G>A
NM_152468.5(TMC8):c.1251+17C>T
NM_152468.5(TMC8):c.1251+18G>A
NM_152468.5(TMC8):c.1251+20G>C
NM_152468.5(TMC8):c.1252-11C>A
NM_152468.5(TMC8):c.1252-14C>A
NM_152468.5(TMC8):c.1252-5C>G
NM_152468.5(TMC8):c.1252-8C>T rs998126542
NM_152468.5(TMC8):c.1269G>A (p.Val423=) rs376603334
NM_152468.5(TMC8):c.1278G>A (p.Glu426=)
NM_152468.5(TMC8):c.1311C>T (p.Leu437=) rs1392254673
NM_152468.5(TMC8):c.1314C>T (p.Thr438=)
NM_152468.5(TMC8):c.1349+8C>T
NM_152468.5(TMC8):c.1350-18A>T
NM_152468.5(TMC8):c.1428G>A (p.Leu476=) rs2145710163
NM_152468.5(TMC8):c.1440G>A (p.Ala480=)
NM_152468.5(TMC8):c.1449G>A (p.Thr483=)
NM_152468.5(TMC8):c.1467C>T (p.Leu489=)
NM_152468.5(TMC8):c.1534-14G>A rs2075289292
NM_152468.5(TMC8):c.1534-15T>C
NM_152468.5(TMC8):c.1534-16T>C
NM_152468.5(TMC8):c.1534-9C>T
NM_152468.5(TMC8):c.1569G>C (p.Arg523=)
NM_152468.5(TMC8):c.1653T>C (p.Tyr551=)
NM_152468.5(TMC8):c.1664+13G>A rs2145715307
NM_152468.5(TMC8):c.1664+15A>G
NM_152468.5(TMC8):c.1664+15_1664+17del rs2075293410
NM_152468.5(TMC8):c.1665-19C>A rs199867961
NM_152468.5(TMC8):c.1665-6C>T
NM_152468.5(TMC8):c.1732C>T (p.Leu578=)
NM_152468.5(TMC8):c.1752G>A (p.Pro584=)
NM_152468.5(TMC8):c.1794C>T (p.Ala598=) rs2075299098
NM_152468.5(TMC8):c.1800C>T (p.Ser600=) rs1210188773
NM_152468.5(TMC8):c.1803C>T (p.Phe601=)
NM_152468.5(TMC8):c.1823+16G>A
NM_152468.5(TMC8):c.1823+20C>A
NM_152468.5(TMC8):c.1824-13C>T
NM_152468.5(TMC8):c.1902+12C>T
NM_152468.5(TMC8):c.1902+13G>A rs752353680
NM_152468.5(TMC8):c.1902+15G>A
NM_152468.5(TMC8):c.1902+9C>G
NM_152468.5(TMC8):c.1903-13G>A rs2075357684
NM_152468.5(TMC8):c.1903-7_1903-5del
NM_152468.5(TMC8):c.2013G>A (p.Pro671=)
NM_152468.5(TMC8):c.2013G>T (p.Pro671=)
NM_152468.5(TMC8):c.2043T>G (p.Pro681=)
NM_152468.5(TMC8):c.2052G>C (p.Pro684=)
NM_152468.5(TMC8):c.2094C>T (p.Ala698=)
NM_152468.5(TMC8):c.2163C>T (p.Pro721=) rs527688678
NM_152468.5(TMC8):c.2166C>T (p.Ser722=)
NM_152468.5(TMC8):c.2175G>A (p.Glu725=)
NM_152468.5(TMC8):c.448+7G>T rs2075040519
NM_152468.5(TMC8):c.448+9_448+15del
NM_152468.5(TMC8):c.449-11C>T
NM_152468.5(TMC8):c.449-19C>A rs1236704408
NM_152468.5(TMC8):c.449-8C>T rs1598902028
NM_152468.5(TMC8):c.486C>T (p.Gly162=)
NM_152468.5(TMC8):c.531+19G>A rs754932707
NM_152468.5(TMC8):c.532-12C>T
NM_152468.5(TMC8):c.532-4C>A
NM_152468.5(TMC8):c.564G>A (p.Ala188=) rs147347722
NM_152468.5(TMC8):c.564G>C (p.Ala188=) rs147347722
NM_152468.5(TMC8):c.579G>A (p.Pro193=)
NM_152468.5(TMC8):c.594G>C (p.Val198=)
NM_152468.5(TMC8):c.603C>T (p.Ile201=)
NM_152468.5(TMC8):c.627G>A (p.Pro209=) rs753745214
NM_152468.5(TMC8):c.642C>T (p.Leu214=) rs1303741273
NM_152468.5(TMC8):c.668+14C>T
NM_152468.5(TMC8):c.668+8C>G rs928247900
NM_152468.5(TMC8):c.669-18T>C
NM_152468.5(TMC8):c.669-4G>A
NM_152468.5(TMC8):c.669-4G>T rs8079824
NM_152468.5(TMC8):c.681G>T (p.Gly227=)
NM_152468.5(TMC8):c.702G>A (p.Leu234=) rs2145644424
NM_152468.5(TMC8):c.729C>T (p.Ser243=)
NM_152468.5(TMC8):c.816+15G>C rs1370855398
NM_152468.5(TMC8):c.816+16_816+19del rs1204160349
NM_152468.5(TMC8):c.817-18C>A
NM_152468.5(TMC8):c.825G>A (p.Leu275=) rs766782170
NM_152468.5(TMC8):c.864C>G (p.Thr288=)
NM_152468.5(TMC8):c.870C>G (p.Ala290=)
NM_152468.5(TMC8):c.891C>T (p.Leu297=)
NM_152468.5(TMC8):c.917_918delinsTT (p.Asn306Ile) rs1598911159
NM_152468.5(TMC8):c.948C>T (p.Ala316=)
NM_152468.5(TMC8):c.963C>T (p.Thr321=) rs776821874
NM_152468.5(TMC8):c.975G>A (p.Gln325=)
NM_152468.5(TMC8):c.987+16A>G
NM_152468.5(TMC8):c.987+20A>T
NM_152468.5(TMC8):c.987+7G>T
NM_152468.5(TMC8):c.987+8G>T rs2075168950
NM_152468.5(TMC8):c.988-4G>A rs62079073

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