List of variants in gene PEX5 studied for Peroxisome biogenesis disorder 1A (Zellweger)

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001351132.2(PEX5):c.794_795dup	rs112785895	0.02091
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=)	rs144401814	0.00048
NM_001351132.2(PEX5):c.446_452dup	rs771366153	0.00032
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)	rs139364109	0.00013
NM_001351132.2(PEX5):c.551+15C>T	rs886049825	0.00003
NM_001351132.2(PEX5):c.*1134dup	rs11448434
NM_001351132.2(PEX5):c.991_992dup	rs886049833
NM_001351132.2(PEX5):c.-17+21_-17+22insCCG	rs886049824
NM_001351132.2(PEX5):c.-17+22_-17+40delinsCC	rs775869915
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA	rs141721291
NM_001351132.2(PEX5):c.1647C>G (p.Leu549=)	rs753512677
NM_001351132.2(PEX5):c.551+113_551+114dup	rs5796268

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