ClinVar Miner

List of variants in gene PEX26 reported as pathogenic by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.230+1G>T rs267608190
NM_001127649.3(PEX26):c.254dup (p.Cys86fs) rs61752133
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter) rs62641229
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_001127649.3(PEX26):c.[34dup;669_814+1del]

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