ClinVar Miner

List of variants in gene HSD17B3 studied for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
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Gene type:
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Total variants: 12
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HGVS dbSNP
HSD17B3, IVS3AS, G-C, -1
NM_000197.1(HSD17B3):c.239G>A rs119481075
NM_000197.1(HSD17B3):c.[194C>T];[239G>A]
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr) rs119481078
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077
NM_000197.2(HSD17B3):c.277+4A>T rs201115371
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079
NM_000197.2(HSD17B3):c.607-1G>A rs730880305
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu) rs28939085
NM_000197.2(HSD17B3):c.703A>G (p.Met235Val) rs119481074
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr) rs119481080

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