ClinVar Miner

List of variants studied for 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) rs119481075 0.00009
NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu) rs28939085 0.00002

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