ClinVar Miner

List of variants studied for Cholestasis by The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter) rs199791850 0.00006
NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter) rs751511532 0.00001
NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter) rs1452792080 0.00001
NM_001371395.1(USP53):c.169C>T (p.Arg57Ter) rs376368459 0.00001
NM_001371395.1(USP53):c.297G>T (p.Arg99Ser) rs762702807 0.00001
NM_001371395.1(USP53):c.395A>G (p.His132Arg) rs1578490102
NM_001371395.1(USP53):c.569+2T>C rs1578491039
NM_001371395.1(USP53):c.583del (p.Arg195fs) rs1578499691
NM_001371395.1(USP53):c.834_835dup (p.Val279fs) rs1578504946
NM_001371395.1(USP53):c.878G>T (p.Gly293Val) rs1317656688

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