List of variants in gene PEX1 reported by Athena Diagnostics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)	rs35996821	0.02553
NM_000466.3(PEX1):c.1671-7T>C	rs74519968	0.01312
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)	rs144942544	0.00217
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	rs61750420	0.00025
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala)	rs886062505	0.00001
NM_000466.3(PEX1):c.1141G>C (p.Ala381Pro)	rs540780825
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_000466.3(PEX1):c.2584-21dup	rs5885806
NM_000466.3(PEX1):c.547C>G (p.Arg183Gly)	rs149806989

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