ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Natera, Inc.

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ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139
NM_000166.6(GJB1):c.318A>G (p.Leu106=) rs754804402
NM_000166.6(GJB1):c.540C>T (p.Phe180=) rs771022595
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247
NM_000166.6(GJB1):c.574G>A (p.Val192Ile)
NM_000166.6(GJB1):c.656G>A (p.Arg219His) rs199834862
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412

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