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: 6

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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	0.00006
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn)	rs201963167	0.00001
NM_001351132.2(PEX5):c.135_147+33delinsC	rs2135880243
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)	rs749729761

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