ClinVar Miner

List of variants in gene SEC63 reported as likely benign for Polycystic liver disease 2

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_007214.5(SEC63):c.1441-4C>G rs200112157 0.00071
NM_007214.5(SEC63):c.230T>C (p.Ile77Thr) rs140251976 0.00036
NM_007214.5(SEC63):c.*1230T>C rs188437808 0.00024
NM_007214.5(SEC63):c.574-20C>G rs369895256 0.00024
NM_007214.5(SEC63):c.1210-7T>A rs201986291 0.00019
NM_007214.5(SEC63):c.2034+10A>G rs200406751 0.00019
NM_007214.5(SEC63):c.340-8T>C rs1569556 0.00016
NM_007214.5(SEC63):c.*3469T>G rs540628373 0.00015
NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu) rs141211769 0.00012
NM_007214.5(SEC63):c.807G>A (p.Thr269=) rs182467867 0.00009
NM_007214.5(SEC63):c.*257A>G rs148053936 0.00006
NM_007214.5(SEC63):c.237G>A (p.Leu79=) rs146134069 0.00006
NM_007214.5(SEC63):c.1176G>A (p.Glu392=) rs61754483 0.00004
NM_007214.5(SEC63):c.453-11T>C rs374073392 0.00004
NM_007214.5(SEC63):c.1441-5C>T rs370312823 0.00003
NM_007214.5(SEC63):c.2205G>C (p.Gly735=) rs761321161 0.00003
NM_007214.5(SEC63):c.2028A>G (p.Thr676=) rs781747090 0.00001
NM_007214.5(SEC63):c.*396T>A rs368205255
NM_007214.5(SEC63):c.125-13del rs565329945
NM_007214.5(SEC63):c.1936-11_1936-9del rs749125299
NM_007214.5(SEC63):c.1936-27_1936-25dup rs749125299
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC rs1554237221
NM_007214.5(SEC63):c.340-12_340-8del rs747514864
NM_007214.5(SEC63):c.882C>T (p.Thr294=) rs746631731
NM_007214.5(SEC63):c.961+14C>T rs143606782

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