ClinVar Miner

List of variants in gene combination GATAD1, PEX1 reported as likely pathogenic for Peroxisome biogenesis disorder 1B

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Total variants: 10
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HGVS dbSNP
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.3208-1G>A rs1057517518
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs) rs1057517509
NM_000466.3(PEX1):c.3451_3452CT[2] (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467

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