ClinVar Miner

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

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) rs765298573 0.00004
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) rs1603223158
NM_004208.4(AIFM1):c.1020G>T (p.Met340Ile)
NM_004208.4(AIFM1):c.1208A>T (p.Asn403Ile)
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) rs2030801584
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882

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