List of variants in gene PEX6 reported as pathogenic by Eurofins NTD LLC (GA)

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)	rs267608241	0.00002
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)	rs1010184002	0.00001
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)	rs886044436
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)	rs398123303
NM_000287.4(PEX6):c.1947del (p.Ile650fs)	rs267608227
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)	rs62653602
NM_000287.4(PEX6):c.311del (p.Gly104fs)	rs61753209
NM_000287.4(PEX6):c.684dup (p.Arg229fs)	rs886043908
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs)	rs398123305

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