ClinVar Miner

List of variants in gene SH3TC2 reported as uncertain significance for not provided

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Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
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.689T>C (p.Val230Ala) rs148634904 0.00086
NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His) rs145390629 0.00074
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.2743A>T (p.Thr915Ser) rs141783628 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.3017C>T (p.Ser1006Phe) rs144733764 0.00033
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.2304C>T (p.Leu768=) rs140829706 0.00026
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.1607G>A (p.Arg536Gln) rs369977771 0.00014
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473 0.00013
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.1106G>A (p.Arg369His) rs551803988 0.00010
NM_024577.4(SH3TC2):c.1002-7G>A rs752528409 0.00009
NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe) rs201805333 0.00009
NM_024577.4(SH3TC2):c.3712C>A (p.Leu1238Met) rs757548779 0.00009
NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His) rs372839905 0.00007
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.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr) rs367656036 0.00006
NM_024577.4(SH3TC2):c.3835C>T (p.Arg1279Trp) rs536334280 0.00006
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367 0.00005
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.1168G>T (p.Asp390Tyr) rs771921298 0.00004
NM_024577.4(SH3TC2):c.1239C>T (p.Ala413=) rs199756080 0.00004
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192 0.00004
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys) rs773087313 0.00004
NM_024577.4(SH3TC2):c.2323G>A (p.Gly775Ser) rs559578990 0.00004
NM_024577.4(SH3TC2):c.2449G>T (p.Asp817Tyr) rs373153093 0.00004
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys) rs142488510 0.00004
NM_024577.4(SH3TC2):c.2858A>C (p.His953Pro) rs369278337 0.00004
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=) rs768044718 0.00004
NM_024577.4(SH3TC2):c.32G>A (p.Arg11Gln) rs558800325 0.00004
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632 0.00004
NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn) rs753142542 0.00004
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=) rs201779392 0.00003
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.2861G>A (p.Arg954Gln) rs776426059 0.00003
NM_024577.4(SH3TC2):c.3363G>A (p.Ala1121=) rs547035706 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.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075 0.00002
NM_024577.4(SH3TC2):c.2258G>A (p.Arg753Gln) rs755570739 0.00002
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727 0.00002
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys) rs756108498 0.00002
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987 0.00002
NM_024577.4(SH3TC2):c.3757A>G (p.Ile1253Val) rs147931490 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.1431G>A (p.Glu477=) rs887057321 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.2083C>G (p.Gln695Glu) rs770170997 0.00001
NM_024577.4(SH3TC2):c.2256C>G (p.Asp752Glu) rs897500539 0.00001
NM_024577.4(SH3TC2):c.230G>A (p.Arg77Gln) rs756666549 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.3034C>T (p.Arg1012Trp) rs541197556 0.00001
NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val) rs794727104 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053 0.00001
NM_024577.4(SH3TC2):c.3526T>G (p.Tyr1176Asp) rs777028943 0.00001
NM_024577.4(SH3TC2):c.56A>G (p.Lys19Arg) rs778863028 0.00001
NM_024577.4(SH3TC2):c.574G>A (p.Glu192Lys) rs755054839 0.00001
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly) rs774120657 0.00001
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu) rs1399431033 0.00001
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met) rs757969875 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.*12110dup rs35182601
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.1106G>T (p.Arg369Leu) rs551803988
NM_024577.4(SH3TC2):c.1139G>T (p.Gly380Val) rs2127397798
NM_024577.4(SH3TC2):c.1196T>G (p.Phe399Cys) rs763564639
NM_024577.4(SH3TC2):c.1311C>A (p.Asp437Glu)
NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)
NM_024577.4(SH3TC2):c.1472_1474del (p.Phe491del)
NM_024577.4(SH3TC2):c.1473C>A (p.Phe491Leu)
NM_024577.4(SH3TC2):c.167_169del (p.Phe56del)
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu) rs1196218767
NM_024577.4(SH3TC2):c.1865A>C (p.Gln622Pro)
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu) rs199991156
NM_024577.4(SH3TC2):c.1926_1927delinsTT (p.Leu642_Leu643delinsPhePhe)
NM_024577.4(SH3TC2):c.2110A>T (p.Met704Leu)
NM_024577.4(SH3TC2):c.2339T>C (p.Leu780Pro)
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val) rs567173388
NM_024577.4(SH3TC2):c.2560A>G (p.Arg854Gly)
NM_024577.4(SH3TC2):c.2641A>G (p.Asn881Asp) rs1245478540
NM_024577.4(SH3TC2):c.2644C>T (p.Leu882Phe)
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.3101T>G (p.Phe1034Cys) rs1753804665
NM_024577.4(SH3TC2):c.320C>G (p.Ala107Gly) rs1371951870
NM_024577.4(SH3TC2):c.323A>G (p.Gln108Arg)
NM_024577.4(SH3TC2):c.3269C>G (p.Ala1090Gly)
NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)
NM_024577.4(SH3TC2):c.3433G>C (p.Ala1145Pro) rs141715248
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser) rs141715248
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.3795G>C (p.Leu1265=) rs144873879
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.4(SH3TC2):c.473_481del (p.Val158_Val160del) rs1554122850
NM_024577.4(SH3TC2):c.4G>T (p.Gly2Cys) rs1554124107
NM_024577.4(SH3TC2):c.515T>G (p.Leu172Arg) rs1408319932
NM_024577.4(SH3TC2):c.581A>G (p.Glu194Gly)
NM_024577.4(SH3TC2):c.638C>T (p.Ala213Val) rs1754371089
NM_024577.4(SH3TC2):c.805+3A>C
NM_024577.4(SH3TC2):c.82G>A (p.Val28Ile)
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.964C>T (p.Pro322Ser)
NM_024577.4(SH3TC2):c.968C>A (p.Thr323Asn) rs1312769510

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