ClinVar Miner

List of variants studied 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: 28
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HGVS dbSNP gnomAD frequency
NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter) rs199791850 0.00006
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) rs139314808 0.00002
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_001374385.1(ATP8B1):c.1029G>A (p.Thr343=) rs765716200 0.00001
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) rs928915940 0.00001
NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter) rs748671901 0.00001
NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter) rs749009273 0.00001
NC_000018.9:g.55335906_55346620dup
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
NM_001374385.1(ATP8B1):c.-25-4014_181+2209del
NM_001374385.1(ATP8B1):c.698+564_941-154dup
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter) rs1182781290
NM_004817.4(TJP2):c.115-1G>A rs1588080680
NM_004817.4(TJP2):c.115-2A>C rs1588080674
NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter) rs777460754
NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter) rs1251192873
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser) rs1588117076
NM_004817.4(TJP2):c.1672-1G>A rs1588127136
NM_004817.4(TJP2):c.2180-5T>G rs1588135086
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg) rs1588081022
t(4;20)(q22.1;p12.2)

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