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

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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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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