ClinVar Miner

List of variants in gene PEX13 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002618.4(PEX13):c.*358G>A rs1177230 0.98833
NM_002618.4(PEX13):c.*2147A>G rs2564097 0.66023
NM_002618.4(PEX13):c.*952C>T rs56739127 0.29127
NM_002618.4(PEX13):c.*1194G>A rs75205376 0.13689
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_002618.4(PEX13):c.*775G>A rs143032208 0.02272
NM_002618.4(PEX13):c.*1652G>A rs72877535 0.01126
NM_002618.4(PEX13):c.*1943G>A rs183689971 0.00973
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_002618.4(PEX13):c.1044T>C (p.Val348=) rs151304822 0.00106
NM_002618.4(PEX13):c.141A>G (p.Ala47=) rs79842991 0.00075
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) rs60203778 0.00022
NM_002618.4(PEX13):c.913+19G>A rs189410109 0.00006
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser) rs550344775
NM_002618.4(PEX13):c.914-8dup rs36090948

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