ClinVar Miner

List of variants reported as pathogenic for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477 0.00002
NC_000005.9:g.118829592G>T rs368744809 0.00001
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 0.00001
NM_000414.4(HSD17B4):c.58+1G>T rs1260517680 0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098 0.00001
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp) rs771780974 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NC_000005.9:g.(?_118788261)_(118792073_?)del
NC_000005.9:g.(?_118788271)_(118877689_?)del
NC_000005.9:g.(?_118809583)_(118814736_?)del
NC_000005.9:g.(?_118811381)_(118814736_?)del
NC_000005.9:g.(?_118827775)_(118837807_?)del
NC_000005.9:g.(?_118837726)_(118837797_?)del
NC_000005.9:g.(?_118842493)_(118844959_?)del
NC_000005.9:g.(?_118865579)_(118867109_?)del
NM_000414.4(HSD17B4):c.1117del (p.Cys373fs)
NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter) rs1750958514
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1230C>G (p.Tyr410Ter) rs763891697
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs) rs2126790164
NM_000414.4(HSD17B4):c.1235_1236del (p.Glu412fs) rs2126790168
NM_000414.4(HSD17B4):c.1352del (p.Lys451fs) rs1751933402
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.1383_1384del (p.Phe462fs) rs2126814260
NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter) rs1751944228
NM_000414.4(HSD17B4):c.1426_1429del (p.Asp476fs)
NM_000414.4(HSD17B4):c.1480_1481insGA (p.Thr494fs) rs775060894
NM_000414.4(HSD17B4):c.1499_1502del (p.Asn500fs)
NM_000414.4(HSD17B4):c.1499del (p.Asn500fs) rs2126834942
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr) rs764300456
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) rs1561485663
NM_000414.4(HSD17B4):c.1578dup (p.Asp527Ter)
NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter)
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs) rs1753560558
NM_000414.4(HSD17B4):c.1708G>T (p.Gly570Ter) rs2126880873
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.187A>T (p.Arg63Ter)
NM_000414.4(HSD17B4):c.1898_1902del (p.Arg633fs)
NM_000414.4(HSD17B4):c.1921G>T (p.Glu641Ter) rs1754083341
NM_000414.4(HSD17B4):c.1951G>T (p.Glu651Ter) rs1754087713
NM_000414.4(HSD17B4):c.1954_1970del (p.Trp652fs) rs2126896587
NM_000414.4(HSD17B4):c.1956G>A (p.Trp652Ter)
NM_000414.4(HSD17B4):c.1986del (p.Lys663fs)
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.283_302+2delinsATATAAAAAAAGAAAA
NM_000414.4(HSD17B4):c.293A>G (p.Asn98Ser) rs1392361503
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000414.4(HSD17B4):c.302+1G>A rs2126689875
NM_000414.4(HSD17B4):c.343del (p.Asp115fs)
NM_000414.4(HSD17B4):c.363_364del (p.Arg121fs)
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000414.4(HSD17B4):c.439del (p.Ile147fs) rs2126702418
NM_000414.4(HSD17B4):c.561dup (p.His188fs)
NM_000414.4(HSD17B4):c.58+1G>C rs1260517680
NM_000414.4(HSD17B4):c.590_597dup (p.Met200fs) rs2126703106
NM_000414.4(HSD17B4):c.605dup (p.Thr203fs) rs2126703227
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) rs1749878115
NM_000414.4(HSD17B4):c.657del (p.Pro220fs) rs2126740125
NM_000414.4(HSD17B4):c.657dup (p.Pro220fs)
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
NM_000414.4(HSD17B4):c.682G>T (p.Glu228Ter) rs746702458
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs) rs2126740316
NM_000414.4(HSD17B4):c.707T>A (p.Leu236Ter)
NM_000414.4(HSD17B4):c.718G>T (p.Gly240Ter)
NM_000414.4(HSD17B4):c.728G>A (p.Trp243Ter) rs2126751711
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
NM_000414.4(HSD17B4):c.740T>G (p.Leu247Ter) rs144141837
NM_000414.4(HSD17B4):c.818G>A (p.Trp273Ter)
NM_000414.4(HSD17B4):c.857del (p.Gln286fs)
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.889G>T (p.Glu297Ter)
NM_000414.4(HSD17B4):c.911C>G (p.Ser304Ter) rs958986994
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753

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