ClinVar Miner

List of variants in gene HSD17B4 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286 0.00019
NM_000414.4(HSD17B4):c.1122G>A (p.Leu374=)
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.505T>C (p.Leu169=)

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