ClinVar Miner

List of variants in gene PEX7 reported as likely pathogenic for Peroxisome biogenesis disorder 9B

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Gene type:
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Total variants: 7
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HGVS dbSNP
NC_000006.11:g.(?_137166776_137167549del
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NM_000288.4(PEX7):c.131-1G>A
NM_000288.4(PEX7):c.188+1G>C rs267608254
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.418-1G>C
NM_000288.4(PEX7):c.736_747+17del rs1057517257

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