ClinVar Miner

List of variants in gene combination HSD17B4, LOC129994460 reported as pathogenic for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000414.4(HSD17B4):c.58+1G>T rs1260517680 0.00001
NM_000414.4(HSD17B4):c.58+1G>C rs1260517680

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