ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.01896
NM_030962.4(SBF2):c.2850C>T (p.Ile950=) rs74642088 0.01620
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01570
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.00986
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00706
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652

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