ClinVar Miner

List of variants reported as likely pathogenic for Bifunctional peroxisomal enzyme deficiency

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Total variants: 41
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HGVS dbSNP
NM_000414.3(HSD17B4):c.[64G>T];[819G>T]
NM_000414.4(HSD17B4):c.113-1G>T rs1224475289
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1268T>G (p.Leu423Ter) rs1057516735
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) rs1057517045
NM_000414.4(HSD17B4):c.1334-2A>T rs1554066421
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp) rs137853097
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1438-2A>C rs1057516273
NM_000414.4(HSD17B4):c.1440_1441del (p.Ala481fs) rs1057516859
NM_000414.4(HSD17B4):c.1504-2A>C rs1554068134
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000414.4(HSD17B4):c.1574-1G>A rs755412738
NM_000414.4(HSD17B4):c.1628_1629GT[5] (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1715_1716CT[1] (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs) rs1057516312
NM_000414.4(HSD17B4):c.1936_1940del (p.Val646fs) rs1057517152
NM_000414.4(HSD17B4):c.1993+2T>G rs1554068960
NM_000414.4(HSD17B4):c.1994-2A>G rs1554069592
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.2121+1G>C rs1554069610
NM_000414.4(HSD17B4):c.220+2T>C rs1231357043
NM_000414.4(HSD17B4):c.221-1G>C rs1554062168
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.281-2A>G rs1554062343
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000414.4(HSD17B4):c.349+1G>T rs1057516958
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477
NM_000414.4(HSD17B4):c.435-2A>T rs1171426785
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000414.4(HSD17B4):c.56_58+3del rs1554059509
NM_000414.4(HSD17B4):c.607_610del (p.Thr203fs) rs1057516310
NM_000414.4(HSD17B4):c.623-1G>A rs1554064083
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
NM_000414.4(HSD17B4):c.709_712del (p.Phe237fs) rs1057516750
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098
NM_000414.4(HSD17B4):c.788del (p.Pro263fs) rs1561457987
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter) rs1057516269
NM_000414.4(HSD17B4):c.973-2A>C rs1057517118

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