ClinVar Miner

List of variants in gene combination AIFM1, RAB33A reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) rs1175521163 0.00006
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) rs1057517852 0.00004
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val) rs761953453 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) rs1603223158
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1]) rs2030881306
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile) rs2030801103
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882
NM_004208.4(AIFM1):c.623C>T (p.Pro208Leu)
NM_004208.4(AIFM1):c.727G>T (p.Val243Leu) rs1603225138
NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu) rs1603224226

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