ClinVar Miner

List of variants in gene HSD17B4 reported by Mendelics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_000414.3(HSD17B4):c.[64G>T];[819G>T]
NM_000414.4(HSD17B4):c.1993+1G>A rs1580711803
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe) rs1307944675

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