List of variants in gene PEX5 studied for Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)	rs76708142	0.02223
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)	rs146567534	0.00047
NM_001351132.2(PEX5):c.230G>A (p.Arg77His)	rs780957318	0.00005
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter)	rs61752137	0.00003
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn)	rs201963167	0.00001
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter)	rs1419213790	0.00001
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)	rs751148574	0.00001
NM_001351132.2(PEX5):c.1182_1183insATCAAACAGATCAAGC (p.Cys395fs)
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter)	rs777735499
NM_001351132.2(PEX5):c.1296C>G (p.Tyr432Ter)
NM_001351132.2(PEX5):c.135_147+33delinsC	rs2135880243
NM_001351132.2(PEX5):c.1488_1510del (p.Val496_Leu497insTer)
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)	rs61752138
NM_001351132.2(PEX5):c.420_421inv (p.Trp140_Ser141delinsTer)
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)	rs749729761
NM_001351132.2(PEX5):c.967-1G>A	rs2136226194

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