ClinVar Miner

List of variants in gene HSD17B4 reported as likely pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_000414.4(HSD17B4):c.1210-11C>G rs779466683
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu)
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile) rs1085307072
NM_000414.4(HSD17B4):c.868+1del rs749532705

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