List of variants in gene PEX6 reported as pathogenic by OMIM

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00294
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	rs61753219	0.00003
NM_000287.4(PEX6):c.1962-1G>A	rs267608229	0.00002
NM_000287.4(PEX6):c.1841del (p.Leu614fs)	rs863225083	0.00001
NM_000287.4(PEX6):c.1130+1G>A	rs267608213
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)	rs1554127531
NM_000287.4(PEX6):c.1301del (p.Ser434fs)	rs62641231
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro)	rs387906809
NM_000287.4(PEX6):c.1688+1G>A	rs112298166
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)	rs769896492
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)	rs62653602
NM_000287.4(PEX6):c.510dup (p.Gly171fs)	rs1491384052
NM_000287.4(PEX6):c.621_882+2del	rs1554128347

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