List of variants in gene PEX6 reported as likely pathogenic for Peroxisome biogenesis disorder 4B

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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: 7

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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.273G>A (p.Trp91Ter)	rs1010184002	0.00001
NM_000287.4(PEX6):c.611C>G (p.Ser204Ter)	rs773056086	0.00001
NM_000287.4(PEX6):c.1401_1403del (p.Leu468del)	rs1222318292
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)	rs1561823098
NM_000287.4(PEX6):c.2579G>C (p.Arg860Pro)	rs61753231

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