ClinVar Miner

List of variants in gene SH3TC2 studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 235
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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.2913C>T (p.Ser971=) rs13436308 0.00462
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884 0.00337
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=) rs141289653 0.00290
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=) rs144016931 0.00213
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.3813C>T (p.Ser1271=) rs140985600 0.00166
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174 0.00133
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882 0.00128
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.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=) rs140904010 0.00108
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.3315G>A (p.Val1105=) rs375970910 0.00083
NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His) rs145390629 0.00074
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543 0.00063
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=) rs200665714 0.00056
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273 0.00051
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699 0.00047
NM_024577.4(SH3TC2):c.257A>G (p.Gln86Arg) rs138429238 0.00046
NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr) rs149244124 0.00045
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=) rs145345364 0.00038
NM_024577.4(SH3TC2):c.1522G>A (p.Val508Met) rs148155691 0.00036
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364 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.1443C>T (p.Asp481=) rs146666910 0.00031
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.1767C>T (p.Ser589=) rs139898175 0.00023
NM_024577.4(SH3TC2):c.1240G>A (p.Val414Met) rs138303846 0.00022
NM_024577.4(SH3TC2):c.1839C>T (p.Leu613=) rs182893450 0.00019
NM_024577.4(SH3TC2):c.1788T>A (p.Gly596=) rs141893132 0.00018
NM_024577.4(SH3TC2):c.2715C>G (p.Leu905=) rs141789598 0.00018
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.831G>A (p.Thr277=) rs750308484 0.00015
NM_024577.4(SH3TC2):c.1329G>A (p.Glu443=) rs150135768 0.00014
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.3049G>A (p.Ala1017Thr) rs186029710 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg) rs187975909 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.1097C>G (p.Thr366Ser) rs769250455 0.00011
NM_024577.4(SH3TC2):c.1326G>A (p.Pro442=) rs138967360 0.00011
NM_024577.4(SH3TC2):c.1853A>G (p.Tyr618Cys) rs772780166 0.00011
NM_024577.4(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756 0.00010
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608 0.00010
NM_024577.4(SH3TC2):c.894C>T (p.Ile298=) rs779808918 0.00010
NM_024577.4(SH3TC2):c.197T>C (p.Val66Ala) rs1485527369 0.00009
NM_024577.4(SH3TC2):c.259G>C (p.Glu87Gln) rs947749200 0.00009
NM_024577.4(SH3TC2):c.280-5C>T rs201937366 0.00009
NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe) rs201805333 0.00009
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=) rs147013935 0.00009
NM_024577.4(SH3TC2):c.1725G>T (p.Leu575Phe) rs376266262 0.00008
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys) rs78346510 0.00007
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.1921C>T (p.Arg641Cys) rs752002618 0.00006
NM_024577.4(SH3TC2):c.2215A>G (p.Met739Val) rs146707871 0.00006
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=) rs574669908 0.00006
NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr) rs367656036 0.00006
NM_024577.4(SH3TC2):c.3094C>T (p.Arg1032Cys) rs375603885 0.00006
NM_024577.4(SH3TC2):c.3287A>G (p.Asn1096Ser) rs768331573 0.00006
NM_024577.4(SH3TC2):c.1653C>T (p.Phe551=) rs538871220 0.00005
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367 0.00005
NM_024577.4(SH3TC2):c.2342G>T (p.Ser781Ile) rs201934740 0.00005
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr) rs771921298 0.00004
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys) rs773087313 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.3168C>T (p.Leu1056=) rs200795092 0.00004
NM_024577.4(SH3TC2):c.3360G>A (p.Lys1120=) rs967171497 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.86C>T (p.Ser29Leu) rs559570623 0.00004
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=) rs201779392 0.00003
NM_024577.4(SH3TC2):c.1947C>T (p.His649=) rs576049662 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2023G>A (p.Val675Ile) rs764633604 0.00003
NM_024577.4(SH3TC2):c.2254G>A (p.Asp752Asn) rs749008572 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.2873-4T>A rs771093927 0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983 0.00003
NM_024577.4(SH3TC2):c.1129C>T (p.Arg377Trp) rs753775570 0.00002
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His) rs146997517 0.00002
NM_024577.4(SH3TC2):c.1284G>A (p.Glu428=) rs367691494 0.00002
NM_024577.4(SH3TC2):c.1764C>T (p.Gly588=) rs776029143 0.00002
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys) rs778936762 0.00002
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=) rs370025626 0.00002
NM_024577.4(SH3TC2):c.1854C>T (p.Tyr618=) rs1483284949 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.2999A>C (p.Glu1000Ala) rs192187328 0.00002
NM_024577.4(SH3TC2):c.3103A>G (p.Ile1035Val) rs369953562 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.936G>A (p.Ser312=) rs918659172 0.00002
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=) rs748870159 0.00001
NM_024577.4(SH3TC2):c.1311C>T (p.Asp437=) rs749587305 0.00001
NM_024577.4(SH3TC2):c.1319G>A (p.Arg440His) rs755748579 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.1436A>G (p.Tyr479Cys) rs757167683 0.00001
NM_024577.4(SH3TC2):c.1584C>T (p.Ala528=) rs762967613 0.00001
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu) rs749260578 0.00001
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr) rs201985394 0.00001
NM_024577.4(SH3TC2):c.2130G>A (p.Gln710=) rs763652479 0.00001
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu) rs1303051798 0.00001
NM_024577.4(SH3TC2):c.2352G>T (p.Leu784Phe) rs754938951 0.00001
NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys) rs202139757 0.00001
NM_024577.4(SH3TC2):c.2940C>T (p.Cys980=) rs140104134 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.3149C>T (p.Ala1050Val) rs570067509 0.00001
NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val) rs1753764548 0.00001
NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg) rs750149369 0.00001
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His) rs748413646 0.00001
NM_024577.4(SH3TC2):c.3308A>G (p.His1103Arg) rs780363659 0.00001
NM_024577.4(SH3TC2):c.3313G>A (p.Val1105Met) rs750746661 0.00001
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053 0.00001
NM_024577.4(SH3TC2):c.3538C>A (p.His1180Asn) rs201876002 0.00001
NM_024577.4(SH3TC2):c.3723G>A (p.Ala1241=) rs777895612 0.00001
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr) rs781625125 0.00001
NM_024577.4(SH3TC2):c.386-2A>C rs145670786 0.00001
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=) rs776623792 0.00001
NM_024577.4(SH3TC2):c.529+1G>A rs769410348 0.00001
NM_024577.4(SH3TC2):c.574G>A (p.Glu192Lys) rs755054839 0.00001
NM_024577.4(SH3TC2):c.578A>G (p.Lys193Arg) rs569256459 0.00001
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly) rs774120657 0.00001
NM_024577.4(SH3TC2):c.75T>A (p.Asp25Glu) rs755164059 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.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.101C>A (p.Ala34Asp) rs1444603403
NM_024577.4(SH3TC2):c.1057G>C (p.Gly353Arg) rs1299916015
NM_024577.4(SH3TC2):c.1061G>C (p.Ser354Thr)
NM_024577.4(SH3TC2):c.1093C>T (p.His365Tyr)
NM_024577.4(SH3TC2):c.1177+5G>A rs1561765688
NM_024577.4(SH3TC2):c.1184A>C (p.Gln395Pro)
NM_024577.4(SH3TC2):c.1204G>A (p.Val402Ile)
NM_024577.4(SH3TC2):c.1211C>T (p.Pro404Leu) rs774001683
NM_024577.4(SH3TC2):c.1244G>T (p.Gly415Val) rs1561765509
NM_024577.4(SH3TC2):c.1336G>A (p.Asp446Asn)
NM_024577.4(SH3TC2):c.1408A>T (p.Ile470Leu)
NM_024577.4(SH3TC2):c.1451A>G (p.Lys484Arg)
NM_024577.4(SH3TC2):c.1517A>G (p.Glu506Gly)
NM_024577.4(SH3TC2):c.1537G>T (p.Ala513Ser) rs1554121737
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.4(SH3TC2):c.1794G>C (p.Leu598=) rs1554121710
NM_024577.4(SH3TC2):c.1840G>T (p.Asp614Tyr) rs201789838
NM_024577.4(SH3TC2):c.1845G>A (p.Val615=) rs914238218
NM_024577.4(SH3TC2):c.1876G>T (p.Val626Leu) rs1311201400
NM_024577.4(SH3TC2):c.191G>A (p.Arg64Lys)
NM_024577.4(SH3TC2):c.1943G>A (p.Arg648Gln) rs149077357
NM_024577.4(SH3TC2):c.1946A>G (p.His649Arg)
NM_024577.4(SH3TC2):c.1959G>T (p.Leu653=) rs1554121674
NM_024577.4(SH3TC2):c.200A>G (p.Asn67Ser) rs772378888
NM_024577.4(SH3TC2):c.2027T>C (p.Leu676Ser)
NM_024577.4(SH3TC2):c.2042A>T (p.Asp681Val)
NM_024577.4(SH3TC2):c.2085A>T (p.Gln695His)
NM_024577.4(SH3TC2):c.2094C>T (p.Ile698=) rs886060196
NM_024577.4(SH3TC2):c.2149A>G (p.Asn717Asp)
NM_024577.4(SH3TC2):c.2199T>A (p.Ser733=) rs1220210982
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter) rs1318388071
NM_024577.4(SH3TC2):c.2212C>T (p.Pro738Ser)
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met) rs1754090424
NM_024577.4(SH3TC2):c.2285T>C (p.Ile762Thr) rs751351645
NM_024577.4(SH3TC2):c.2311A>G (p.Arg771Gly) rs1754089250
NM_024577.4(SH3TC2):c.2329A>G (p.Ile777Val)
NM_024577.4(SH3TC2):c.2380G>C (p.Glu794Gln)
NM_024577.4(SH3TC2):c.2464C>T (p.Leu822=) rs752906301
NM_024577.4(SH3TC2):c.2514C>G (p.Ile838Met)
NM_024577.4(SH3TC2):c.255C>T (p.Asp85=) rs886060199
NM_024577.4(SH3TC2):c.2600A>T (p.Gln867Leu)
NM_024577.4(SH3TC2):c.2602G>A (p.Glu868Lys)
NM_024577.4(SH3TC2):c.2629G>A (p.Val877Met)
NM_024577.4(SH3TC2):c.2635A>G (p.Met879Val)
NM_024577.4(SH3TC2):c.270G>A (p.Met90Ile)
NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln)
NM_024577.4(SH3TC2):c.3006G>T (p.Arg1002Ser)
NM_024577.4(SH3TC2):c.3053G>A (p.Arg1018Lys)
NM_024577.4(SH3TC2):c.3115del (p.Glu1039fs)
NM_024577.4(SH3TC2):c.3155G>A (p.Arg1052Gln)
NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=) rs755006924
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp) rs1580888993
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser) rs141715248
NM_024577.4(SH3TC2):c.3460A>G (p.Arg1154Gly)
NM_024577.4(SH3TC2):c.3478+4G>A
NM_024577.4(SH3TC2):c.3478+5G>A
NM_024577.4(SH3TC2):c.349G>A (p.Glu117Lys)
NM_024577.4(SH3TC2):c.34A>G (p.Ser12Gly)
NM_024577.4(SH3TC2):c.3509A>G (p.His1170Arg)
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His) rs200728983
NM_024577.4(SH3TC2):c.3593_3594inv (p.Pro1198Leu)
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=) rs886060195
NM_024577.4(SH3TC2):c.3634G>A (p.Val1212Met) rs756174696
NM_024577.4(SH3TC2):c.3634G>T (p.Val1212Leu)
NM_024577.4(SH3TC2):c.3688G>A (p.Ala1230Thr)
NM_024577.4(SH3TC2):c.3688G>T (p.Ala1230Ser)
NM_024577.4(SH3TC2):c.370A>T (p.Thr124Ser)
NM_024577.4(SH3TC2):c.3771G>A (p.Leu1257=) rs1472880531
NM_024577.4(SH3TC2):c.3790C>G (p.Pro1264Ala) rs945895550
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.4(SH3TC2):c.3853G>A (p.Gly1285Ser)
NM_024577.4(SH3TC2):c.43C>T (p.Arg15Trp)
NM_024577.4(SH3TC2):c.452T>C (p.Val151Ala) rs779715536
NM_024577.4(SH3TC2):c.515T>C (p.Leu172Pro)
NM_024577.4(SH3TC2):c.515T>G (p.Leu172Arg) rs1408319932
NM_024577.4(SH3TC2):c.566C>T (p.Pro189Leu)
NM_024577.4(SH3TC2):c.581A>G (p.Glu194Gly)
NM_024577.4(SH3TC2):c.628A>G (p.Met210Val)
NM_024577.4(SH3TC2):c.643T>C (p.Ser215Pro)
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr) rs1580909284
NM_024577.4(SH3TC2):c.814C>G (p.Arg272Gly)
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val) rs757292503
NM_024577.4(SH3TC2):c.895G>A (p.Gly299Ser) rs1233598157

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