ClinVar Miner

List of variants in gene PEX14 reported as likely pathogenic for Peroxisome biogenesis disorder, complementation group K

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004565.3(PEX14):c.204_298+125delinsTATTCCTT
NM_004565.3(PEX14):c.298+1G>C
NM_004565.3(PEX14):c.299-5_306del
NM_004565.3(PEX14):c.36+1G>T rs1641167602

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