ClinVar Miner

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

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Total variants: 18
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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.2041A>G (p.Lys681Glu) rs139348491 0.00006
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 0.00001
NM_000414.4(HSD17B4):c.2081A>G (p.Asp694Gly) rs1561494635 0.00001
NM_000414.4(HSD17B4):c.2138G>A (p.Arg713Lys) rs149776885 0.00001
NM_000414.4(HSD17B4):c.481C>G (p.Gln161Glu) rs747162503 0.00001
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=) rs776640310 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NM_000414.4(HSD17B4):c.1122G>A (p.Leu374=)
NM_000414.4(HSD17B4):c.1160T>C (p.Met387Thr)
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1627C>T (p.Arg543Cys) rs775326908
NM_000414.4(HSD17B4):c.2179_2180del (p.Gln727fs) rs1057519212
NM_000414.4(HSD17B4):c.2179_2183delinsAAA (p.Gln727fs) rs1057519420
NM_000414.4(HSD17B4):c.346T>C (p.Trp116Arg) rs1748532789
NM_000414.4(HSD17B4):c.458C>T (p.Ser153Leu) rs2126702555
NM_000414.4(HSD17B4):c.505T>C (p.Leu169=)

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