ClinVar Miner

List of variants in gene SH3TC2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.2872+9G>A rs76488338 0.01755
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=) rs13436308 0.00462
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291 0.00390
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.505T>C (p.Tyr169His) rs80359890 0.00205
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.73G>T (p.Asp25Tyr) rs10066882 0.00128
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=) rs17795193 0.00125
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.3380G>A (p.Arg1127Gln) rs139192433 0.00108
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.1443C>T (p.Asp481=) rs146666910 0.00031
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732 0.00028
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_024577.4(SH3TC2):c.3712C>A (p.Leu1238Met) rs757548779 0.00009
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=) rs147013935 0.00009
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343 0.00004
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys) rs773087313 0.00004
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.4(SH3TC2):c.438C>A (p.Leu146=) rs976553031

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