List of variants in gene PEX5 reported as likely pathogenic for Peroxisome biogenesis disorder 2B

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001351132.2(PEX5):c.966+1G>C	rs2136176386	0.00002
NM_001351132.2(PEX5):c.135_147+32del	rs2539801815
NM_001351132.2(PEX5):c.135_147+33delinsC	rs2135880243
NM_001351132.2(PEX5):c.147+2T>G	rs2539802789
NM_001351132.2(PEX5):c.147+4A>G	rs749342175
NM_001351132.2(PEX5):c.148-2A>T
NM_001351132.2(PEX5):c.1561-2A>G	rs2136254229
NM_001351132.2(PEX5):c.317-2A>G	rs2135903939
NM_001351132.2(PEX5):c.552-1G>A	rs1064793563
NM_001351132.2(PEX5):c.753+1G>A	rs2540148926
NM_001351132.2(PEX5):c.753+2T>C	rs1468724704
NM_001351132.2(PEX5):c.754-2A>C	rs1591759567
NM_001351132.2(PEX5):c.847-2A>G	rs2540182543
NM_001351132.2(PEX5):c.847-7_861del	rs2540182221
NM_001351132.2(PEX5):c.967-1G>A	rs2136226194
NM_001351132.2(PEX5):c.967-1_971del	rs769741088

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