ClinVar Miner

List of variants studied for Congenital bile acid synthesis defect 1

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Total variants: 5

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HGVS	dbSNP
NM_025193.4(HSD3B7):c.1039_1040del (p.Leu347fs)	rs397514442
NM_025193.4(HSD3B7):c.294dup (p.Lys99fs)	rs397514443
NM_025193.4(HSD3B7):c.322+1G>T	rs387906288
NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys)	rs104894518
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs)	rs786200876

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