ClinVar Miner

List of variants reported as pathogenic for 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Included ClinVar conditions (1):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) rs119481075 0.00009
NM_000197.2(HSD17B3):c.278-1G>C rs149607031 0.00004
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079 0.00004
NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu) rs28939085 0.00002
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr) rs119481078 0.00001
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000197.2(HSD17B3):c.607-1G>A rs730880305 0.00001
NM_000197.2(HSD17B3):c.703A>G (p.Met235Val) rs119481074 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.277G>A (p.Glu93Lys)
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
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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