ClinVar Miner

List of variants in gene SH3TC2 reported as likely pathogenic for not provided

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Total variants: 12
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HGVS dbSNP
NM_024577.3(SH3TC2):c.1135+3G>C rs1064793267
NM_024577.3(SH3TC2):c.1282G>T (p.Glu428Ter) rs1554121777
NM_024577.3(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207
NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.312dup (p.Gln105fs) rs1554122973
NM_024577.3(SH3TC2):c.3300del (p.His1100fs) rs774401267
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.3(SH3TC2):c.52+4_52+5delAG rs879254057
NM_024577.3(SH3TC2):c.731+5G>A rs879254316
NM_024577.3(SH3TC2):c.748_750del (p.Tyr250del) rs1064795016

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