ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type 4B2 by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 12
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HGVS dbSNP
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) rs145199888
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2894A>G (p.Asn965Ser)
NM_030962.3(SBF2):c.3111-6T>C rs16907139
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154
NM_030962.3(SBF2):c.3794-20C>T rs116966215
NM_030962.3(SBF2):c.3831C>G (p.Ile1277Met) rs139522696
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832

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