List of variants reported as pathogenic for Bifunctional peroxisomal enzyme deficiency by Baylor Genetics

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Total variants: 15

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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.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.742C>T (p.Arg248Cys)	rs969485098	0.00001
NM_000414.4(HSD17B4):c.1210-1G>A	rs1554065671
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	rs137853097
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

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