ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002617.4(PEX10):c.113-1G>A rs867305222 0.00002
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe) rs1414973726 0.00001
NM_002617.4(PEX10):c.776+1G>C rs869312935
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.916del (p.Glu306fs) rs2100419143

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