ClinVar Miner

List of variants in gene PEX1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000466.3(PEX1):c.159C>T (p.His53=) rs200950057 0.00014
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00006
NM_000466.3(PEX1):c.2124G>C (p.Leu708=) rs200258130 0.00004
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.282C>G (p.Leu94=) rs201368809 0.00001
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.130-2A>G rs1585260993
NM_000466.3(PEX1):c.1976T>G (p.Val659Gly) rs1792104355
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2205A>G (p.Gln735=) rs201308230
NM_000466.3(PEX1):c.2226+2T>C rs1792005848
NM_000466.3(PEX1):c.2426del (p.Val808_Leu809insTer) rs1791933271
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088

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