ClinVar Miner

List of variants in gene LOC130066940, PEX26 studied for peroxisomal disease

Included ClinVar conditions (82):
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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001127649.3(PEX26):c.23C>T (p.Ser8Phe) rs749146718 0.00002
NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)
NM_001127649.3(PEX26):c.12T>C (p.Asp4=) rs2123643665
NM_001127649.3(PEX26):c.15T>C (p.Ser5=) rs2123643683
NM_001127649.3(PEX26):c.17C>T (p.Ser6Leu) rs770013891
NM_001127649.3(PEX26):c.18G>A (p.Ser6=)
NM_001127649.3(PEX26):c.20C>T (p.Thr7Ile) rs1273090730
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_001127649.3(PEX26):c.3G>A (p.Met1Ile)

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