ClinVar Miner

List of variants reported as likely pathogenic for biliary tract disorder by The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001371395.1(USP53):c.395A>G (p.His132Arg) rs1578490102
NM_001371395.1(USP53):c.878G>T (p.Gly293Val) rs1317656688
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser) rs1588117076
NM_004817.4(TJP2):c.2180-5T>G rs1588135086
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg) rs1588081022

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