ClinVar Miner

List of variants in gene MTMR2 reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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NM_001243571.2(MTMR2):c.-404+13C>T rs139510268
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_016156.5(MTMR2):c.*1066T>C rs16922622
NM_016156.5(MTMR2):c.*1396C>T rs16922615
NM_016156.5(MTMR2):c.*1444C>G rs149223349
NM_016156.5(MTMR2):c.*1952G>A rs118033833
NM_016156.5(MTMR2):c.*2014T>G rs112404010
NM_016156.5(MTMR2):c.*2406C>T rs16922613
NM_016156.5(MTMR2):c.*85A>C rs578159
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1303T>C (p.Leu435=) rs767737380
NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser) rs558018
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.297C>T (p.Gly99=) rs772347980
NM_016156.5(MTMR2):c.469-9C>A rs779741464
NM_016156.5(MTMR2):c.507G>A (p.Gly169=) rs753188177
NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser) rs142155860
NM_016156.5(MTMR2):c.655-7C>T rs775390447
NM_016156.5(MTMR2):c.75G>A (p.Leu25=) rs1376231939

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