ClinVar Miner

List of variants in gene SH3TC2 reported as uncertain significance by GeneDx

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_024577.4(SH3TC2):c.1195T>C (p.Phe399Leu) rs144764160 0.00118
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018 0.00117
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273 0.00051
NM_024577.4(SH3TC2):c.257A>G (p.Gln86Arg) rs138429238 0.00046
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_024577.4(SH3TC2):c.1522G>A (p.Val508Met) rs148155691 0.00036
NM_024577.4(SH3TC2):c.1172T>G (p.Leu391Arg) rs141544031 0.00035
NM_024577.4(SH3TC2):c.2306A>G (p.Glu769Gly) rs151317042 0.00034
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249 0.00032
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732 0.00028
NM_024577.4(SH3TC2):c.1240G>A (p.Val414Met) rs138303846 0.00022
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His) rs138040787 0.00016
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_024577.4(SH3TC2):c.836A>G (p.Tyr279Cys) rs200215156 0.00013
NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602 0.00012
NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe) rs201805333 0.00009
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met) rs147633804 0.00007
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776 0.00006
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640 0.00005
NM_024577.4(SH3TC2):c.814C>T (p.Arg272Cys) rs146143252 0.00005
NM_024577.4(SH3TC2):c.2323G>A (p.Gly775Ser) rs559578990 0.00004
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys) rs142488510 0.00004
NM_024577.4(SH3TC2):c.223C>T (p.Arg75Trp) rs769679412 0.00003
NM_024577.4(SH3TC2):c.2551C>T (p.Arg851Trp) rs144655516 0.00003
NM_024577.4(SH3TC2):c.908C>A (p.Pro303His) rs778572329 0.00003
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His) rs146997517 0.00002
NM_024577.4(SH3TC2):c.2258G>A (p.Arg753Gln) rs755570739 0.00002
NM_024577.4(SH3TC2):c.1002-5T>A rs769711653 0.00001
NM_024577.4(SH3TC2):c.1325C>T (p.Pro442Leu) rs370613184 0.00001
NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838 0.00001
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr) rs201985394 0.00001
NM_024577.4(SH3TC2):c.2407G>A (p.Ala803Thr) rs377434575 0.00001
NM_024577.4(SH3TC2):c.2506G>A (p.Gly836Arg) rs768389060 0.00001
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172 0.00001
NM_024577.4(SH3TC2):c.56A>G (p.Lys19Arg) rs778863028 0.00001
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly) rs774120657 0.00001
NM_024577.4(SH3TC2):c.89G>A (p.Ser30Asn) rs765890403 0.00001
NM_024577.4(SH3TC2):c.904A>G (p.Ile302Val) rs745345448 0.00001
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.1139G>T (p.Gly380Val) rs2127397798
NM_024577.4(SH3TC2):c.1311C>A (p.Asp437Glu)
NM_024577.4(SH3TC2):c.1402_1403del (p.Ala468fs) rs876661068
NM_024577.4(SH3TC2):c.148C>T (p.Pro50Ser) rs1057518369
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu) rs1196218767
NM_024577.4(SH3TC2):c.2641A>G (p.Asn881Asp) rs1245478540
NM_024577.4(SH3TC2):c.279+5G>A rs1371552621
NM_024577.4(SH3TC2):c.283C>T (p.Leu95Phe) rs541695222
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala) rs1554121529
NM_024577.4(SH3TC2):c.3269C>G (p.Ala1090Gly)
NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)
NM_024577.4(SH3TC2):c.3466A>G (p.Ser1156Gly) rs1320597279
NM_024577.4(SH3TC2):c.3643C>A (p.Arg1215Ser) rs267600481
NM_024577.4(SH3TC2):c.3757A>C (p.Ile1253Leu) rs147931490
NM_024577.4(SH3TC2):c.473_481del (p.Val158_Val160del) rs1554122850
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val) rs757292503
NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp) rs1465198831
NM_024577.4(SH3TC2):c.968C>A (p.Thr323Asn) rs1312769510

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