ClinVar Miner

List of variants in gene SLC25A46 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
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Total variants: 74
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HGVS dbSNP
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NC_000005.9:g.(?_110079421)_(110079498_?)del
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp) rs1057518748
NM_138773.4(SLC25A46):c.100A>G (p.Ser34Gly)
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765
NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro) rs1057519294
NM_138773.4(SLC25A46):c.1036A>G (p.Thr346Ala) rs1561610023
NM_138773.4(SLC25A46):c.1063C>G (p.Leu355Val)
NM_138773.4(SLC25A46):c.1070A>G (p.Tyr357Cys) rs1229680117
NM_138773.4(SLC25A46):c.1072G>C (p.Glu358Gln)
NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=) rs1164068029
NM_138773.4(SLC25A46):c.1135G>C (p.Glu379Gln)
NM_138773.4(SLC25A46):c.1137G>T (p.Glu379Asp) rs79149180
NM_138773.4(SLC25A46):c.1213A>G (p.Ile405Val) rs1561610274
NM_138773.4(SLC25A46):c.1248T>C (p.Asn416=) rs776771749
NM_138773.4(SLC25A46):c.134C>T (p.Thr45Ile) rs1554091122
NM_138773.4(SLC25A46):c.147C>T (p.Ile49=) rs145421520
NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr) rs147648476
NM_138773.4(SLC25A46):c.166dup (p.His56fs) rs1057519416
NM_138773.4(SLC25A46):c.169T>C (p.Trp57Arg)
NM_138773.4(SLC25A46):c.194G>C (p.Gly65Ala) rs1410055577
NM_138773.4(SLC25A46):c.196G>T (p.Val66Leu) rs758140632
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys) rs200566665
NM_138773.4(SLC25A46):c.23G>C (p.Gly8Ala)
NM_138773.4(SLC25A46):c.247A>G (p.Ser83Gly)
NM_138773.4(SLC25A46):c.284-3T>C
NM_138773.4(SLC25A46):c.313A>G (p.Ile105Val)
NM_138773.4(SLC25A46):c.313A>T (p.Ile105Phe)
NM_138773.4(SLC25A46):c.322G>A (p.Ala108Thr)
NM_138773.4(SLC25A46):c.359G>T (p.Cys120Phe)
NM_138773.4(SLC25A46):c.371G>A (p.Arg124His) rs756258729
NM_138773.4(SLC25A46):c.378A>G (p.Gln126=) rs151055603
NM_138773.4(SLC25A46):c.385-4A>G rs377289513
NM_138773.4(SLC25A46):c.385G>A (p.Val129Ile)
NM_138773.4(SLC25A46):c.410A>G (p.His137Arg)
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg) rs1057519295
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn) rs202123515
NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile) rs1057519296
NM_138773.4(SLC25A46):c.427G>A (p.Val143Ile) rs1554092069
NM_138773.4(SLC25A46):c.429C>T (p.Val143=) rs35220834
NM_138773.4(SLC25A46):c.44G>A (p.Arg15Gln) rs372382932
NM_138773.4(SLC25A46):c.458C>A (p.Thr153Asn)
NM_138773.4(SLC25A46):c.463-3del
NM_138773.4(SLC25A46):c.46G>T (p.Gly16Cys) rs770562376
NM_138773.4(SLC25A46):c.47del (p.Gly16fs)
NM_138773.4(SLC25A46):c.50G>A (p.Gly17Asp) rs1561595689
NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser) rs191332512
NM_138773.4(SLC25A46):c.55C>A (p.Arg19=) rs1186440654
NM_138773.4(SLC25A46):c.563+6A>T rs114546039
NM_138773.4(SLC25A46):c.579A>T (p.Lys193Asn)
NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg)
NM_138773.4(SLC25A46):c.620+4_620+7del
NM_138773.4(SLC25A46):c.620C>A (p.Ser207Tyr)
NM_138773.4(SLC25A46):c.630C>T (p.Tyr210=) rs201039547
NM_138773.4(SLC25A46):c.631G>A (p.Val211Met) rs114859074
NM_138773.4(SLC25A46):c.63G>T (p.Glu21Asp) rs1561595734
NM_138773.4(SLC25A46):c.678+3G>A
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073
NM_138773.4(SLC25A46):c.767A>G (p.Lys256Arg) rs141213807
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln) rs1184021143
NM_138773.4(SLC25A46):c.776T>G (p.Leu259Arg) rs150754737
NM_138773.4(SLC25A46):c.803C>T (p.Thr268Met) rs751900293
NM_138773.4(SLC25A46):c.804G>A (p.Thr268=) rs757342761
NM_138773.4(SLC25A46):c.81C>T (p.Ala27=) rs1323118441
NM_138773.4(SLC25A46):c.849G>C (p.Gln283His)
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs) rs1057518749
NM_138773.4(SLC25A46):c.887A>G (p.Asn296Ser) rs201789237
NM_138773.4(SLC25A46):c.938_940del (p.Tyr313del)
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup) rs374899270
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)
NM_138773.4(SLC25A46):c.977G>T (p.Cys326Phe)
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu) rs1057518750
SCL25A46, 1.897-KB DEL

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