ClinVar Miner

List of variants studied for Bifunctional peroxisomal enzyme deficiency by OMIM

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Total variants: 7
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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.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.317G>C (p.Arg106Pro) rs25640
NM_000414.4(HSD17B4):c.423_424del (p.Lys142fs) rs775832137
NM_000414.4(HSD17B4):c.974_1209+1del rs1554065254

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