ClinVar Miner

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

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val) rs550705310 0.00002
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1574-1G>A rs755412738 0.00001
NM_000414.4(HSD17B4):c.280+2T>C rs770772281 0.00001
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) rs775766910 0.00001
NC_000005.10:g.(?_119514971)_(119542004_?)del
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe) rs1198548214
NM_000414.4(HSD17B4):c.1261+1G>T
NM_000414.4(HSD17B4):c.1262-1G>A rs2126806430
NM_000414.4(HSD17B4):c.1262-1G>C
NM_000414.4(HSD17B4):c.1262-2A>G rs1751692890
NM_000414.4(HSD17B4):c.1333+1G>A
NM_000414.4(HSD17B4):c.1438-1G>A rs1554067009
NM_000414.4(HSD17B4):c.1438-1G>C
NM_000414.4(HSD17B4):c.1438-2A>C rs1057516273
NM_000414.4(HSD17B4):c.1503+1G>A
NM_000414.4(HSD17B4):c.1504-1G>A
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1573+1G>T
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu) rs1488399880
NM_000414.4(HSD17B4):c.281-2A>G rs1554062343
NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp) rs1561442127
NM_000414.4(HSD17B4):c.293A>T (p.Asn98Ile)
NM_000414.4(HSD17B4):c.294C>G (p.Asn98Lys)
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.350-1G>T
NM_000414.4(HSD17B4):c.587C>A (p.Ala196Glu)
NM_000414.4(HSD17B4):c.59-1G>A
NM_000414.4(HSD17B4):c.714+1G>C
NM_000414.4(HSD17B4):c.715-1G>A
NM_000414.4(HSD17B4):c.739+1G>A rs1561456373
NM_000414.4(HSD17B4):c.739+1G>T
NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)
NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)

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