ClinVar Miner

List of variants in gene SH3TC2 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 14
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HGVS dbSNP
NM_024577.3(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) rs201779392
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172
NM_024577.3(SH3TC2):c.2923C>G (p.Pro975Ala) rs1554121529
NM_024577.3(SH3TC2):c.3095G>A (p.Arg1032His) rs372839905
NM_024577.3(SH3TC2):c.3097A>G (p.Ile1033Val) rs794727104
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3757A>G (p.Ile1253Val) rs147931490
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904

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