List of variants in gene PEX16 reported as likely pathogenic for Peroxisome biogenesis disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp)	rs1064794320	0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)	rs769772100	0.00001
NM_004813.4(PEX16):c.112+2T>G	rs1590798080
NM_004813.4(PEX16):c.149-2A>G
NM_004813.4(PEX16):c.226-2A>C
NM_004813.4(PEX16):c.359+1G>A
NM_004813.4(PEX16):c.694+1G>A	rs2134692847
NM_004813.4(PEX16):c.887+2T>G	rs2134691627
NM_004813.4(PEX16):c.888-1G>C
NM_004813.4(PEX16):c.888-2A>C	rs2086772786

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