ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency

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Total variants: 33
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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.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245 0.00268
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_004208.4(AIFM1):c.274G>A (p.Glu92Lys) rs149319206 0.00155
NM_004208.4(AIFM1):c.948C>A (p.Ala316=) rs148184613 0.00123
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.106+15C>G rs199863662 0.00059
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902 0.00051
NM_004208.4(AIFM1):c.54C>G (p.Pro18=) rs140076585 0.00049
NM_004208.4(AIFM1):c.1075+20A>G rs373642288 0.00035
NM_004208.4(AIFM1):c.1458G>A (p.Leu486=) rs762808288 0.00034
NM_004208.4(AIFM1):c.341C>T (p.Ala114Val) rs138662844 0.00025
NM_004208.4(AIFM1):c.262A>G (p.Met88Val) rs750098055 0.00023
NM_004208.4(AIFM1):c.1644G>A (p.Pro548=) rs150821143 0.00020
NM_004208.4(AIFM1):c.724A>G (p.Met242Val) rs138123187 0.00017
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.366A>G (p.Glu122=) rs756883753 0.00009
NM_004208.4(AIFM1):c.968-14T>A rs201991839 0.00008
NM_004208.4(AIFM1):c.134C>G (p.Pro45Arg) rs756361109 0.00007
NM_004208.4(AIFM1):c.1633C>T (p.Pro545Ser) rs139322490 0.00006
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_004208.4(AIFM1):c.1573+18C>G
NM_004208.4(AIFM1):c.250-4G>A rs759767218
NM_004208.4(AIFM1):c.384G>A (p.Ala128=)
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174
NM_004208.4(AIFM1):c.649C>T (p.Leu217=)
NM_004208.4(AIFM1):c.782-11C>T

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