ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.116A>C (p.His39Pro) rs61753237 0.00003
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NC_000006.11:g.(?_137191125)_(137199715_?)del
NM_000288.4(PEX7):c.131-1G>A rs2115129048
NM_000288.4(PEX7):c.188+2del
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr) rs61753240
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
NM_000288.4(PEX7):c.340-1G>T rs780751870
NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) rs764346452
NM_000288.4(PEX7):c.418-1G>C rs773406384
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter) rs1173171051
NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)
NM_000288.4(PEX7):c.513del (p.Phe171fs)
NM_000288.4(PEX7):c.538_539del (p.Leu180fs) rs1582757650
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000288.4(PEX7):c.633+1G>A rs1057516989
NM_000288.4(PEX7):c.634-2A>G
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.747+1G>A
NM_000288.4(PEX7):c.747+2T>A
NM_000288.4(PEX7):c.747del (p.Lys249fs)
NM_000288.4(PEX7):c.748-2A>G rs778862698
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.803+1G>A
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257

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