ClinVar Miner

List of variants in gene NR1H4 reported as pathogenic for biliary tract disorder

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NG_029843.1:g.23704_55438del
NM_001206979.2(NR1H4):c.1280del (p.Gln427fs)
NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys) rs879255644
NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter) rs113090017

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