List of variants in gene NR1H4 studied for Cholestasis, progressive familial intrahepatic, 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001206979.2(NR1H4):c.1A>G (p.Met1Val)	rs138943609	0.00026
NM_001206979.2(NR1H4):c.268C>T (p.Arg90Cys)	rs150295715	0.00007
NG_029843.1:g.23704_55438del
NM_001206979.2(NR1H4):c.1034del (p.Pro345fs)	rs1593114820
NM_001206979.2(NR1H4):c.1280del (p.Gln427fs)
NM_001206979.2(NR1H4):c.380G>A (p.Cys127Tyr)
NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys)	rs879255644
NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter)	rs113090017
NM_001206979.2(NR1H4):c.831+1G>T	rs1555335782
NM_001206979.2(NR1H4):c.887C>T (p.Thr296Ile)	rs1251445242
NM_001206979.2(NR1H4):c.976G>C (p.Gly326Arg)

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