ClinVar Miner

List of variants in gene MTMR2 reported as benign for Charcot-Marie-Tooth disease type 4B1

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.*1419G>A rs496305 0.27825
NM_016156.6(MTMR2):c.*1934T>C rs525404 0.27753
NM_016156.6(MTMR2):c.*1568C>T rs596277 0.27751
NM_016156.6(MTMR2):c.*549G>A rs611020 0.27729
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_016156.6(MTMR2):c.*1066T>C rs16922622 0.07419
NM_016156.6(MTMR2):c.*1396C>T rs16922615 0.07185
NM_016156.6(MTMR2):c.*1444C>G rs149223349 0.04087
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=) rs61735577 0.04066
NM_016156.6(MTMR2):c.*2014T>G rs112404010 0.03885
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03636
NM_016156.6(MTMR2):c.80+13C>T rs139510268 0.01848
NM_016156.6(MTMR2):c.*2406C>T rs16922613 0.01655
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_016156.6(MTMR2):c.*1952G>A rs118033833 0.01538
NM_016156.6(MTMR2):c.*85A>C rs578159 0.01009
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113 0.00069
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_016156.6(MTMR2):c.*987T>C rs57807625

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