List of variants reported as pathogenic for Bifunctional peroxisomal enzyme deficiency

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_000414.4(HSD17B4):c.280+2T>C	rs770772281	0.00005
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)	rs773305477	0.00002
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.1547T>C (p.Ile516Thr)	rs587777443	0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)	rs1038744864	0.00001
NM_000414.4(HSD17B4):c.1768-1G>A	rs1359482508	0.00001
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)	rs751646311	0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)	rs969485098	0.00001
GRCh37/hg19 5q23.1(chr5:118811401-118814716)
NC_000005.9:g.(118810156_118811400)_(118811566_118813111)del
NM_000414.4(HSD17B4):c.1210-1G>A	rs1554065671
NM_000414.4(HSD17B4):c.1212_1261+2del	rs1554065670
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	rs137853097
NM_000414.4(HSD17B4):c.145_220+63del	rs2531598967
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)	rs1554068136
NM_000414.4(HSD17B4):c.1984del (p.Ala662fs)	rs2126896727
NM_000414.4(HSD17B4):c.1993+1G>A	rs1580711803
NM_000414.4(HSD17B4):c.302+3_302+6del	rs863225438
NM_000414.4(HSD17B4):c.302+3delinsTGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATACTTTCCTCCTTTTACCCTATACAACATTGATTT	rs2126689896
NM_000414.4(HSD17B4):c.317G>C (p.Arg106Pro)	rs25640
NM_000414.4(HSD17B4):c.31dup (p.Val11fs)	rs2531471980
NM_000414.4(HSD17B4):c.343del (p.Asp115fs)	rs2531610643
NM_000414.4(HSD17B4):c.350A>T (p.Asp117Val)	rs1447689394
NM_000414.4(HSD17B4):c.423_424del (p.Lys142fs)	rs775832137
NM_000414.4(HSD17B4):c.715-1G>A	rs2531693353
NM_000414.4(HSD17B4):c.868+1del	rs749532705
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)	rs758055753
NM_000414.4(HSD17B4):c.974_1209+1del	rs1554065254

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