ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=) rs776221160 0.00003
NM_024577.4(SH3TC2):c.3300del (p.His1100fs) rs774401267 0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983 0.00003
NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter) rs1754425732 0.00001
NM_024577.4(SH3TC2):c.386-2A>C rs145670786 0.00001
NM_024577.4(SH3TC2):c.529+1G>A rs769410348 0.00001
NM_024577.4(SH3TC2):c.1135+3G>C rs1064793267
NM_024577.4(SH3TC2):c.1282G>T (p.Glu428Ter) rs1554121777
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.4(SH3TC2):c.2403_2404delinsAA (p.Cys801_Leu802delinsTer) rs2127397160
NM_024577.4(SH3TC2):c.312dup (p.Gln105fs) rs1554122973
NM_024577.4(SH3TC2):c.3272G>T (p.Gly1091Val)
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.4(SH3TC2):c.52+4_52+5del rs879254057
NM_024577.4(SH3TC2):c.731+5G>A rs879254316
NM_024577.4(SH3TC2):c.748_750del (p.Tyr250del) rs1064795016
NM_024577.4(SH3TC2):c.805+2T>C rs139052887

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