ClinVar Miner

List of variants in gene PEX10 reported as pathogenic for Peroxisome biogenesis disorder, complementation group 7

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Total variants: 4
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HGVS dbSNP
NM_002617.3(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.3(PEX10):c.704dup (p.Leu236fs) rs61750435
NM_002617.3(PEX10):c.814_815del (p.Leu272fs) rs61752093
NM_153818.1(PEX10):c.600+1G>A rs267608183

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