List of variants in gene PEX1 reported as pathogenic by Revvity Omics, Revvity

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	rs61750420	0.00025
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)	rs398123408	0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)	rs749067142	0.00002
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	rs61750422	0.00001
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)	rs1554372561
NM_000466.3(PEX1):c.2083_2084del (p.Met695fs)	rs2116156265
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)	rs201415996

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