ClinVar Miner

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

Included ClinVar conditions (137):
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Gene type:
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Total variants: 25
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HGVS dbSNP
NM_004208.4(AIFM1):c.*20C>A
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004208.4(AIFM1):c.1574-20G>T
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) rs1057517852
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val)
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375
NM_004208.4(AIFM1):c.1782C>T (p.Asp594=)
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209
NM_004208.4(AIFM1):c.249+1258T>C
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)
NM_004208.4(AIFM1):c.422C>T (p.Thr141Ile) rs1603227409
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile)
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882
NM_004208.4(AIFM1):c.606-15C>T rs191297808
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902
NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser) rs1603224817
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115
NM_004208.4(AIFM1):c.939C>T (p.Ser313=)
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545

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