ClinVar Miner

List of variants in gene SLC25A46 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (135):
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Total variants: 59
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HGVS dbSNP
NM_138773.4(SLC25A46):c.100A>G (p.Ser34Gly)
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.1135G>C (p.Glu379Gln) rs370880304
NM_138773.4(SLC25A46):c.1198G>A (p.Ala400Thr)
NM_138773.4(SLC25A46):c.1213A>G (p.Ile405Val) rs1561610274
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.148C>A (p.Pro50Thr) rs147648476
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.230C>T (p.Thr77Met)
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)
NM_138773.4(SLC25A46):c.276G>C (p.Gln92His)
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.314T>C (p.Ile105Thr)
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.385G>A (p.Val129Ile) rs766440921
NM_138773.4(SLC25A46):c.410A>G (p.His137Arg) rs754427464
NM_138773.4(SLC25A46):c.427G>A (p.Val143Ile) rs1554092069
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.463-3del
NM_138773.4(SLC25A46):c.46G>T (p.Gly16Cys) rs770562376
NM_138773.4(SLC25A46):c.50G>A (p.Gly17Asp) rs1561595689
NM_138773.4(SLC25A46):c.55C>A (p.Arg19=) rs1186440654
NM_138773.4(SLC25A46):c.579A>T (p.Lys193Asn)
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
NM_138773.4(SLC25A46):c.620C>A (p.Ser207Tyr) rs766116322
NM_138773.4(SLC25A46):c.626C>T (p.Thr209Ile)
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+3G>A
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073
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.849G>C (p.Gln283His) rs772739765
NM_138773.4(SLC25A46):c.879G>C (p.Lys293Asn)
NM_138773.4(SLC25A46):c.887A>G (p.Asn296Ser) rs201789237
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)
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)
NM_138773.4(SLC25A46):c.977G>T (p.Cys326Phe)
NM_138773.4(SLC25A46):c.985G>A (p.Val329Ile)

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