ClinVar Miner

List of variants reported as uncertain significance for biliary tract disorder by 3billion, Medical Genetics

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg) rs745557569 0.00001
NM_000214.3(JAG1):c.224T>C (p.Phe75Ser) rs2122644646
NM_000443.4(ABCB4):c.1210C>T (p.Pro404Ser) rs863225298
NM_000443.4(ABCB4):c.2782A>G (p.Arg928Gly) rs2116424316
NM_001080467.3(MYO5B):c.999G>T (p.Leu333Phe)
NM_003742.4(ABCB11):c.1434+5G>A
NM_003742.4(ABCB11):c.2629G>C (p.Gly877Arg)
NM_003742.4(ABCB11):c.713G>A (p.Gly238Asp) rs72551306
NM_003742.4(ABCB11):c.76+4A>G

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