ClinVar Miner

List of variants reported as likely pathogenic for bilirubin metabolism disease by Hadassah Hebrew University Medical Center

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001206979.2(NR1H4):c.1034del (p.Pro345fs) rs1593114820
NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter) rs1057524081
NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter) rs1574462504

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