ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 4B1

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_016156.6(MTMR2):c.*1684A>C rs79576160 0.00401
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_016156.6(MTMR2):c.*837G>A rs532069328 0.00323
NM_016156.6(MTMR2):c.*2187A>G rs141738388 0.00232
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=) rs112327353 0.00203
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113 0.00069
NM_016156.6(MTMR2):c.*1089C>G rs147982779 0.00031
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 0.00015
NM_016156.6(MTMR2):c.1594-20C>A rs201996397 0.00010
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_016156.6(MTMR2):c.213A>G (p.Ala71=) rs1402885565 0.00001
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429

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