ClinVar Miner

List of variants in gene combination AIFM1, RAB33A reported as benign for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115 0.03205
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545 0.03061
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245 0.00268
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_004208.4(AIFM1):c.262A>G (p.Met88Val) rs750098055 0.00023
NM_004208.4(AIFM1):c.968-14T>A rs201991839 0.00008
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174

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