List of variants reported as pathogenic for 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency by Clinical Biochemistry Laboratory, Health Services Laboratory

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000197.2(HSD17B3):c.607-1G>A	rs730880305	0.00001
NM_000197.2(HSD17B3):c.201+1G>A
NM_000197.2(HSD17B3):c.202-1G>A	rs1378603446
NM_000197.2(HSD17B3):c.203T>G (p.Leu68Arg)
NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)
NM_000197.2(HSD17B3):c.729_735del (p.Ile244fs)
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr)	rs119481080

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