ClinVar Miner

List of variants in gene HSD17B4 reported as uncertain significance by GeneDx

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His) rs35281104 0.00029
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg) rs142889209 0.00013
NM_000414.4(HSD17B4):c.1759C>G (p.Gln587Glu) rs138507337 0.00009
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132 0.00004
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro) rs771009588 0.00003
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120 0.00003
NM_000414.4(HSD17B4):c.1897C>T (p.Arg633Cys) rs767299480 0.00001
NM_000414.4(HSD17B4):c.614T>C (p.Met205Thr) rs761601392 0.00001
NM_000414.4(HSD17B4):c.782A>C (p.Asn261Thr) rs763121959 0.00001
NM_000414.4(HSD17B4):c.961A>G (p.Thr321Ala) rs773233283 0.00001
NM_000414.4(HSD17B4):c.1020G>A (p.Thr340=)
NM_000414.4(HSD17B4):c.1604_1606delinsTTT (p.Cys535_Thr536delinsPheSer) rs2126876332
NM_000414.4(HSD17B4):c.161C>T (p.Ala54Val)
NM_000414.4(HSD17B4):c.186AAG[1] (p.Arg65del) rs770940142
NM_000414.4(HSD17B4):c.1900C>T (p.Arg634Cys)
NM_000414.4(HSD17B4):c.1958A>G (p.His653Arg)
NM_000414.4(HSD17B4):c.1972G>A (p.Gly658Arg)
NM_000414.4(HSD17B4):c.2146G>T (p.Ala716Ser)
NM_000414.4(HSD17B4):c.280G>T (p.Asp94Tyr) rs1748381199
NM_000414.4(HSD17B4):c.397G>A (p.Ala133Thr) rs1044762772
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
NM_000414.4(HSD17B4):c.598A>G (p.Met200Val)
NM_000414.4(HSD17B4):c.628G>T (p.Val210Leu)
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) rs552078818
NM_000414.4(HSD17B4):c.796C>T (p.Pro266Ser) rs146555135
NM_000414.4(HSD17B4):c.973G>A (p.Ala325Thr)

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