ClinVar Miner

List of variants in gene SEC63 reported as likely benign for Polycystic liver disease 1

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_007214.4(SEC63):c.-268C>A rs565916525 0.00005
NM_007214.4(SEC63):c.-264T>C rs565275212 0.00001
NM_007214.5(SEC63):c.*1936del rs535127807
NM_007214.5(SEC63):c.*2479dup rs200116970
NM_007214.5(SEC63):c.125-13del rs565329945
NM_007214.5(SEC63):c.1625_1626insTAC (p.Pro542_Gln543insThr) rs779139584
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) rs752018806
NM_007214.5(SEC63):c.1936-4_1936-3insTT rs773608064
NM_007214.5(SEC63):c.340-15_340-13del rs150022935
NM_007214.5(SEC63):c.340-6_340-5dup rs142388422

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