ClinVar Miner

List of variants studied 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: 14
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HGVS dbSNP gnomAD frequency
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079 0.00004
NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val) rs142236065 0.00004
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr) rs119481078 0.00001
NM_000197.2(HSD17B3):c.607-1G>A rs730880305 0.00001
NM_000197.2(HSD17B3):c.1A>G (p.Met1Val)
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.277+5G>A
NM_000197.2(HSD17B3):c.590T>A (p.Met197Lys)
NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp)
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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