ClinVar Miner

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

Included ClinVar conditions (9):
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398 0.00012
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
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.422C>T (p.Thr141Ile) rs1603227409
NM_004208.4(AIFM1):c.460G>A (p.Asp154Asn) rs999882329
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174
NM_004208.4(AIFM1):c.623C>T (p.Pro208Leu)
NM_004208.4(AIFM1):c.727G>T (p.Val243Leu) rs1603225138
NM_004208.4(AIFM1):c.776C>G (p.Ala259Gly) rs2124656989
NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser) rs1603224817
NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu) rs1603224226

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