ClinVar Miner

List of variants studied for bilirubin metabolism disease by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_001080467.3(MYO5B):c.5041G>T (p.Val1681Leu) rs200540643 0.00009
NM_000443.4(ABCB4):c.2833C>T (p.Gln945Ter) rs886042562 0.00001
NM_152672.6(SLC51A):c.850T>A (p.Cys284Ser)

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