ClinVar Miner

List of variants reported as likely pathogenic for Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.188+1del
NM_000288.4(PEX7):c.209dup (p.Leu70fs) rs2548072028
NM_000288.4(PEX7):c.259dup (p.Ser87fs)
NM_000288.4(PEX7):c.26del (p.Ala9fs)
NM_000288.4(PEX7):c.398G>A (p.Trp133Ter)
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.620_623delinsATACAGTCACAATGAGGT (p.Cys207fs)
NM_000288.4(PEX7):c.632del (p.Glu211fs)
NM_000288.4(PEX7):c.803+1G>A rs2548096639
NM_000288.4(PEX7):c.9_18delinsAGTAGCGGG (p.Cys5fs)

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