ClinVar Miner

List of variants in gene HSD17B4 reported as pathogenic for 46,XX disorder of sex development

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
HSD17B4, TYR568TER
NM_000414.3(HSD17B4):c.101C>T (p.Ala34Val) rs587777442
NM_000414.3(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.3(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.3(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000414.3(HSD17B4):c.1578delT (p.Phe526Leufs)
NM_000414.3(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.3(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825

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