ClinVar Miner

List of variants in gene HSD17B4 reported as benign 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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NM_000414.4(HSD17B4):c.*250dup rs34381335
NM_000414.4(HSD17B4):c.-75C>G rs26180
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589

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