ClinVar Miner

List of variants in gene SH3TC2 reported as uncertain significance by Genesis Genome Database

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Total variants: 29
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HGVS dbSNP
NM_024577.3(SH3TC2):c.*882G>A rs775429372
NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364
NM_024577.3(SH3TC2):c.2578C>T (p.Leu860Phe) rs139958177
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498
NM_024577.3(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.3(SH3TC2):c.529+1G>A rs769410348
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) rs757969875
NM_024577.4(SH3TC2):c.*858_*862del
NM_024577.4(SH3TC2):c.*861dup
NM_024577.4(SH3TC2):c.1002-8del
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys)
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys)
NM_024577.4(SH3TC2):c.2015del (p.Val672fs)
NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly)
NM_024577.4(SH3TC2):c.2696T>C (p.Leu899Pro)
NM_024577.4(SH3TC2):c.280-1334dup
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro)
NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs)
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.4(SH3TC2):c.386-2A>C
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter)

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