ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP
NM_001243571.2(MTMR2):c.-404+13C>T rs139510268
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_016156.5(MTMR2):c.*1066T>C rs16922622
NM_016156.5(MTMR2):c.*1396C>T rs16922615
NM_016156.5(MTMR2):c.*1419G>A rs496305
NM_016156.5(MTMR2):c.*1444C>G rs149223349
NM_016156.5(MTMR2):c.*1568C>T rs596277
NM_016156.5(MTMR2):c.*1934T>C rs525404
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.*549G>A rs611020
NM_016156.5(MTMR2):c.*85A>C rs578159
NM_016156.5(MTMR2):c.*987T>C rs57807625
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874

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