ClinVar Miner

List of variants in gene combination AIFM1, RAB33A reported as pathogenic for auditory system disorder

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) rs863225431
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) rs863225432

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