ClinVar Miner

List of variants in gene HSD17B4 reported as pathogenic for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome

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Total variants: 6
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NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) rs1561485663
NM_000414.4(HSD17B4):c.1628_1629GT[5] (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098

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