ClinVar Miner

List of variants in gene SH3TC2 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803 0.02130
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753 0.00494
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.3479-8A>G rs147800229 0.00227
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.1177+10G>A rs139257109 0.00153
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=) rs17795193 0.00125
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.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=) rs200665714 0.00056
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser) rs141783628 0.00036
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.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.3049G>A (p.Ala1017Thr) rs186029710 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_024577.4(SH3TC2):c.1326G>A (p.Pro442=) rs138967360 0.00011
NM_024577.4(SH3TC2):c.1106G>A (p.Arg369His) rs551803988 0.00010
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069 0.00010
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.2492G>A (p.Ser831Asn) rs375034766 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.1168G>T (p.Asp390Tyr) rs771921298 0.00004
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192 0.00004
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=) rs768044718 0.00004
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=) rs766282582 0.00004
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632 0.00004
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln) rs776426059 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 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.1002-5T>A rs769711653 0.00001
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=) rs748870159 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.1651T>C (p.Phe551Leu) rs1554121720 0.00001
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu) rs770170997 0.00001
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.3313G>A (p.Val1105Met) rs750746661 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591 0.00001
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter) rs1754425732 0.00001
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu) rs1399431033 0.00001
NM_024577.4(SH3TC2):c.1196T>G (p.Phe399Cys) rs763564639
NM_024577.4(SH3TC2):c.1292T>A (p.Leu431His) rs1554121776
NM_024577.4(SH3TC2):c.1360A>G (p.Met454Val) rs1554121765
NM_024577.4(SH3TC2):c.1472_1474del (p.Phe491del)
NM_024577.4(SH3TC2):c.1473C>A (p.Phe491Leu)
NM_024577.4(SH3TC2):c.1537G>T (p.Ala513Ser) rs1554121737
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu) rs199991156
NM_024577.4(SH3TC2):c.2339T>C (p.Leu780Pro)
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala) rs1554121529
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.3795G>C (p.Leu1265=) rs144873879
NM_024577.4(SH3TC2):c.957del (p.Phe320fs) rs1554122541

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