ClinVar Miner

List of variants in gene HSD3B7 studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
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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