ClinVar Miner

List of variants in gene combination GATAD1, PEX1 reported as likely pathogenic for Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000466.3(PEX1):c.2849dup (p.His951fs)
NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)
NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)
NM_000466.3(PEX1):c.3003del (p.Lys1001fs)
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)
NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3308del (p.Gly1103fs)
NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)
NM_000466.3(PEX1):c.3422del (p.Gly1141fs)
NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)
NM_000466.3(PEX1):c.3573del (p.Glu1191fs) rs1585211048

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