ClinVar Miner

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

Included ClinVar conditions (137):
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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP
NC_000005.10:g.(?_110743720)_(110743797_?)del
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NG_051334.1:g.(?_5985)_(28647_?)del
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp) rs1057518748
NM_138773.4(SLC25A46):c.100A>G (p.Ser34Gly) rs1580850073
NM_138773.4(SLC25A46):c.1015C>T (p.His339Tyr)
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765
NM_138773.4(SLC25A46):c.1019G>C (p.Arg340Pro)
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) rs139534651
NM_138773.4(SLC25A46):c.1070A>G (p.Tyr357Cys) rs1229680117
NM_138773.4(SLC25A46):c.1072G>C (p.Glu358Gln) rs977278982
NM_138773.4(SLC25A46):c.1101G>A (p.Glu367=) rs768641525
NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=) rs1164068029
NM_138773.4(SLC25A46):c.1135G>C (p.Glu379Gln) rs370880304
NM_138773.4(SLC25A46):c.1137G>T (p.Glu379Asp) rs79149180
NM_138773.4(SLC25A46):c.1198G>A (p.Ala400Thr)
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.124T>G (p.Trp42Gly)
NM_138773.4(SLC25A46):c.1257A>G (p.Ter419Trp)
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) rs761045034
NM_138773.4(SLC25A46):c.185_189del (p.Pro62fs)
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.203C>G (p.Thr68Ser)
NM_138773.4(SLC25A46):c.209C>G (p.Ser70Cys)
NM_138773.4(SLC25A46):c.219C>T (p.Tyr73=) rs755840361
NM_138773.4(SLC25A46):c.229A>C (p.Thr77Pro)
NM_138773.4(SLC25A46):c.230C>T (p.Thr77Met)
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys) rs200566665
NM_138773.4(SLC25A46):c.237A>C (p.Glu79Asp)
NM_138773.4(SLC25A46):c.23G>C (p.Gly8Ala) rs960197684
NM_138773.4(SLC25A46):c.241T>C (p.Phe81Leu)
NM_138773.4(SLC25A46):c.247A>G (p.Ser83Gly) rs892374338
NM_138773.4(SLC25A46):c.26T>C (p.Phe9Ser)
NM_138773.4(SLC25A46):c.276G>C (p.Gln92His)
NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn) rs73230112
NM_138773.4(SLC25A46):c.284-3T>C rs770457308
NM_138773.4(SLC25A46):c.313A>G (p.Ile105Val) rs768960064
NM_138773.4(SLC25A46):c.313A>T (p.Ile105Phe) rs768960064
NM_138773.4(SLC25A46):c.314T>C (p.Ile105Thr)
NM_138773.4(SLC25A46):c.322G>A (p.Ala108Thr) rs766964934
NM_138773.4(SLC25A46):c.359G>T (p.Cys120Phe) rs772344091
NM_138773.4(SLC25A46):c.370C>T (p.Arg124Cys)
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.384+4A>C
NM_138773.4(SLC25A46):c.385-4A>G rs377289513
NM_138773.4(SLC25A46):c.385G>A (p.Val129Ile) rs766440921
NM_138773.4(SLC25A46):c.410A>G (p.His137Arg) rs754427464
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) rs775286893
NM_138773.4(SLC25A46):c.462+1G>A
NM_138773.4(SLC25A46):c.463-3del rs769567758
NM_138773.4(SLC25A46):c.46G>T (p.Gly16Cys) rs770562376
NM_138773.4(SLC25A46):c.47del (p.Gly16fs) rs1580849841
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.558G>A (p.Leu186=) rs200143217
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) rs1580866176
NM_138773.4(SLC25A46):c.597A>G (p.Ile199Met)
NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg) rs767725140
NM_138773.4(SLC25A46):c.59A>T (p.Asp20Val)
NM_138773.4(SLC25A46):c.620+4_620+7del rs1580866253
NM_138773.4(SLC25A46):c.620C>A (p.Ser207Tyr) rs766116322
NM_138773.4(SLC25A46):c.626C>T (p.Thr209Ile)
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.634G>T (p.Val212Leu)
NM_138773.4(SLC25A46):c.63G>T (p.Glu21Asp) rs1561595734
NM_138773.4(SLC25A46):c.678+14dup rs539229853
NM_138773.4(SLC25A46):c.678+3G>A rs1580867186
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu) rs149585060
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073
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.779C>T (p.Pro260Leu) rs1580870705
NM_138773.4(SLC25A46):c.780G>A (p.Pro260=) rs766154121
NM_138773.4(SLC25A46):c.799_800dup (p.Thr268fs)
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.829A>C (p.Ile277Leu)
NM_138773.4(SLC25A46):c.849G>C (p.Gln283His) rs772739765
NM_138773.4(SLC25A46):c.864_866dup (p.Ile289dup)
NM_138773.4(SLC25A46):c.878A>T (p.Lys293Met)
NM_138773.4(SLC25A46):c.879G>C (p.Lys293Asn)
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs) rs1057518749
NM_138773.4(SLC25A46):c.884A>C (p.Tyr295Ser)
NM_138773.4(SLC25A46):c.887A>G (p.Asn296Ser) rs201789237
NM_138773.4(SLC25A46):c.908C>A (p.Thr303Asn)
NM_138773.4(SLC25A46):c.927G>T (p.Met309Ile)
NM_138773.4(SLC25A46):c.930G>T (p.Leu310Phe)
NM_138773.4(SLC25A46):c.938_940del (p.Tyr313del) rs374899270
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup) rs374899270
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro) rs1390567933
NM_138773.4(SLC25A46):c.977G>T (p.Cys326Phe) rs762881271
NM_138773.4(SLC25A46):c.985G>A (p.Val329Ile)
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu) rs1057518750
SCL25A46, 1.897-KB DEL

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