ClinVar Miner

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

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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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.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_016156.6(MTMR2):c.*85A>C rs578159 0.01009
NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser) rs142155860 0.00492
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_016156.6(MTMR2):c.1770+7_1770+12del rs754608173 0.00319
NM_016156.6(MTMR2):c.130G>A (p.Val44Ile) rs146004831 0.00293
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=) rs112327353 0.00216
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.1563C>A (p.Leu521=) rs772490648 0.00026
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_016156.6(MTMR2):c.298G>A (p.Ala100Thr) rs370701984 0.00008
NM_016156.6(MTMR2):c.993+9G>C rs201595704 0.00008
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 0.00001
NM_016156.6(MTMR2):c.*1226_*1228del rs142663762
NM_016156.6(MTMR2):c.*987T>C rs57807625
NM_016156.6(MTMR2):c.186+19A>T rs12385798
NM_016156.6(MTMR2):c.186+5624TTTTA[6] rs112378876
NM_016156.6(MTMR2):c.187-17dup rs1195059303

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