ClinVar Miner

Variants in gene combination AIFM1, RAB33A with conflicting interpretations reported as "likely benign and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_004208.4(AIFM1):c.948C>A (p.Ala316=) rs148184613 0.00123
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_004208.4(AIFM1):c.1075+20A>G rs373642288 0.00035
NM_004208.4(AIFM1):c.1458G>A (p.Leu486=) rs762808288 0.00034
NM_004208.4(AIFM1):c.341C>T (p.Ala114Val) rs138662844 0.00025
NM_004208.4(AIFM1):c.262A>G (p.Met88Val) rs750098055 0.00023
NM_004208.4(AIFM1):c.1644G>A (p.Pro548=) rs150821143 0.00020
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398 0.00012
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745 0.00009
NM_004208.4(AIFM1):c.366A>G (p.Glu122=) rs756883753 0.00009
NM_004208.4(AIFM1):c.134C>G (p.Pro45Arg) rs756361109 0.00007
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174

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