ClinVar Miner

List of variants in gene HSD17B4 reported as likely pathogenic for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)
NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)
NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)
NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)
NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) rs1057517045
NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)
NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)
NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)
NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)
NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs)
NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)
NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)
NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)
NM_000414.4(HSD17B4):c.290del (p.Val97fs)
NM_000414.4(HSD17B4):c.358del (p.His120fs)
NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile) rs1085307072
NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)
NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)
NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)
NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs) rs2126740316
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)

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