ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Natera, Inc.

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Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.318A>G (p.Leu106=) rs754804402
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240
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.627G>T (p.Val209=) rs376113695
NM_000166.6(GJB1):c.656G>A (p.Arg219His) rs199834862
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080

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