ClinVar Miner

List of variants studied for Congenital bile acid synthesis defect 1

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala) rs9938550 0.52796
NM_025193.4(HSD3B7):c.1068T>C (p.Arg356=) rs2305880 0.52781
NM_025193.4(HSD3B7):c.714C>T (p.His238=) rs147510106 0.00014
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=) rs760192112 0.00008
NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys) rs907386068 0.00001
NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys) rs104894518 0.00001
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs) rs786200876 0.00001
NM_025193.4(HSD3B7):c.557C>T (p.Thr186Met) rs141929596 0.00001
NM_025193.4(HSD3B7):c.569G>A (p.Arg190His) rs376746447 0.00001
NM_025193.4(HSD3B7):c.682C>T (p.Arg228Trp) rs746884533 0.00001
NM_025193.4(HSD3B7):c.689A>G (p.Tyr230Cys) rs1020519659 0.00001
NM_025193.4(HSD3B7):c.968C>T (p.Thr323Met) rs775593829 0.00001
NM_025193.4(HSD3B7):c.1025del (p.Phe342fs) rs775934717
NM_025193.4(HSD3B7):c.1039_1040del (p.Leu347fs) rs397514442
NM_025193.4(HSD3B7):c.143C>G (p.Pro48Arg) rs2056463300
NM_025193.4(HSD3B7):c.205C>T (p.Gln69Ter) rs2056470234
NM_025193.4(HSD3B7):c.294dup (p.Lys99fs) rs397514443
NM_025193.4(HSD3B7):c.322+1G>T rs387906288
NM_025193.4(HSD3B7):c.323-1G>A
NM_025193.4(HSD3B7):c.431+2T>C rs2543933911
NM_025193.4(HSD3B7):c.499G>T (p.Glu167Ter) rs560826820
NM_025193.4(HSD3B7):c.551del (p.Leu184fs)
NM_025193.4(HSD3B7):c.586G>A (p.Gly196Ser) rs886044435
NM_025193.4(HSD3B7):c.694+2del rs786205627

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