ClinVar Miner

List of variants reported as pathogenic for Neuropathy, hereditary motor and sensory, type 6B

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765 0.00003
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073 0.00003
NM_138773.4(SLC25A46):c.166dup (p.His56fs) rs1057519416 0.00001
NC_000005.10:g.(?_110743720)_(110743797_?)del
NC_000005.9:g.(?_110074821)_(110097482_?)del
NC_000005.9:g.(?_110074821)_110097482del
NM_001303250.3(SLC25A46):c.10+526_11-1368delinsGGCCGGGCGCG
NM_138773.2(SLC25A46):c.1_1257del
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp) rs1057518748
NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs) rs1064795772
NM_138773.4(SLC25A46):c.185_189del (p.Pro62fs) rs1799544883
NM_138773.4(SLC25A46):c.273del (p.Gln92fs) rs1022269942
NM_138773.4(SLC25A46):c.304G>T (p.Gly102Ter)
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg) rs1057519295
NM_138773.4(SLC25A46):c.462+1G>A rs1799819389
NM_138773.4(SLC25A46):c.479G>C (p.Trp160Ser)
NM_138773.4(SLC25A46):c.47del (p.Gly16fs) rs1580849841
NM_138773.4(SLC25A46):c.598_599dup (p.His202fs)
NM_138773.4(SLC25A46):c.618del (p.Lys206fs) rs1371249361
NM_138773.4(SLC25A46):c.799_800dup (p.Thr268fs) rs1800243948
NM_138773.4(SLC25A46):c.996C>G (p.Tyr332Ter) rs530045841

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