ClinVar Miner

List of variants in gene PEX7 reported as likely pathogenic by Baylor Genetics

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Total variants: 24
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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
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345 0.00001
NM_000288.4(PEX7):c.188+2del
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
NM_000288.4(PEX7):c.233del (p.Asn78fs) rs1582732852
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
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.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.634-2A>G
NM_000288.4(PEX7):c.735dup (p.Arg246Ter) rs1582760004
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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