ClinVar Miner

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

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398 0.00012
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) rs765298573 0.00004

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