ClinVar Miner

List of variants in gene AIFM1, RAB33A studied for Charcot-Marie-Tooth disease

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115 0.03205
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545 0.03061
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245 0.00268
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745 0.00009
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) rs1175521163 0.00006
NM_004208.4(AIFM1):c.249+1258T>C rs753318816 0.00005
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) rs1057517852 0.00004
NM_004208.4(AIFM1):c.939C>T (p.Ser313=) rs768118991 0.00004
NM_004208.4(AIFM1):c.1574-20G>T rs749868550 0.00002
NM_004208.4(AIFM1):c.1782C>T (p.Asp594=) rs148690239 0.00002
NM_004208.4(AIFM1):c.*20C>A rs753119555
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile) rs2030801103
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882

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