List of variants in gene PEX1 reported as uncertain significance for PEX1-related disorder

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)	rs141510219	0.00015
NM_000466.3(PEX1):c.2060G>A (p.Arg687Gln)	rs201443294	0.00013
NM_000466.3(PEX1):c.88C>T (p.His30Tyr)	rs375045292	0.00009
NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln)	rs139797041	0.00007
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu)	rs141509344	0.00006
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)	rs374010060	0.00004
NM_000466.3(PEX1):c.1193T>A (p.Ile398Asn)	rs775546711	0.00003
NM_000466.3(PEX1):c.1566G>C (p.Leu522Phe)	rs145471560	0.00003
NM_000466.3(PEX1):c.2719-4A>G	rs762436079	0.00003
NM_000466.3(PEX1):c.1639A>G (p.Ile547Val)	rs892831590	0.00001
NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys)	rs1305700033	0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)	rs780119112	0.00001
NM_000466.3(PEX1):c.1142C>G (p.Ala381Gly)	rs73404416
NM_000466.3(PEX1):c.1300C>T (p.Pro434Ser)
NM_000466.3(PEX1):c.1762_1763delinsTT (p.Ala588Leu)
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe)	rs193221288
NM_000466.3(PEX1):c.2666T>C (p.Leu889Ser)
NM_000466.3(PEX1):c.598C>T (p.His200Tyr)
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)	rs751506204

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