ClinVar Miner

List of variants in gene SH3TC2 reported as likely benign for not specified

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Total variants: 31
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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.1194T>C (p.Gly398=) rs1432793 0.48793
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
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.2873-18T>C rs113514936 0.00154
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=) rs140904010 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.2385C>T (p.Ser795=) rs145345364 0.00038
NM_024577.4(SH3TC2):c.2715C>G (p.Leu905=) rs141789598 0.00018
NM_024577.4(SH3TC2):c.1329G>A (p.Glu443=) rs150135768 0.00014
NM_024577.4(SH3TC2):c.280-5C>T rs201937366 0.00009
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=) rs147013935 0.00009
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=) rs574669908 0.00006
NM_024577.4(SH3TC2):c.1764C>T (p.Gly588=) rs776029143 0.00002
NM_024577.4(SH3TC2):c.936G>A (p.Ser312=) rs918659172 0.00002
NM_024577.4(SH3TC2):c.1135+15T>G rs765853048 0.00001
NM_024577.4(SH3TC2):c.1311C>T (p.Asp437=) rs749587305 0.00001
NM_024577.4(SH3TC2):c.2130G>A (p.Gln710=) rs763652479 0.00001
NM_024577.4(SH3TC2):c.2940C>T (p.Cys980=) rs140104134 0.00001
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591 0.00001
NM_024577.4(SH3TC2):c.53-17T>C rs1468767577 0.00001
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val) rs537134516
NM_024577.4(SH3TC2):c.1959G>T (p.Leu653=) rs1554121674
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030

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