ClinVar Miner

List of variants in gene MTMR2 studied for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=) rs61735577 0.04066
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.1233G>A (p.Thr411=) rs113897932 0.01619
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.1336G>A (p.Glu446Lys) rs146572467 0.00053
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala) rs186380748 0.00014
NM_016156.6(MTMR2):c.1594-20C>A rs201996397 0.00010
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val) rs149476960 0.00010
NM_016156.6(MTMR2):c.279T>C (p.Tyr93=) rs372937811 0.00009
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His) rs142460913 0.00008
NM_016156.6(MTMR2):c.810A>C (p.Leu270Phe) rs587779385 0.00007
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_016156.6(MTMR2):c.186+9A>G rs371081575 0.00004
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=) rs139369561 0.00003
NM_016156.6(MTMR2):c.655-19T>C rs756828009 0.00003
NM_016156.6(MTMR2):c.1387-19T>G rs760358740 0.00002
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro) rs372095826 0.00002
NM_016156.6(MTMR2):c.1749G>A (p.Trp583Ter) rs1590968942 0.00002
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_016156.6(MTMR2):c.297C>T (p.Gly99=) rs772347980 0.00002
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val) rs887196115 0.00002
NM_016156.6(MTMR2):c.1770+3A>G rs756909627 0.00001
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 0.00001
NM_016156.6(MTMR2):c.654+5G>A rs1398525959 0.00001
NM_016156.6(MTMR2):c.*17G>A rs1590967661
NM_016156.6(MTMR2):c.*53G>A rs587779387
NM_016156.6(MTMR2):c.-15T>C rs1867041432
NM_016156.6(MTMR2):c.-16C>T rs1312979957
NM_016156.6(MTMR2):c.1343T>C (p.Leu448Pro) rs1590978277
NM_016156.6(MTMR2):c.1534del (p.Leu512fs) rs1590970977
NM_016156.6(MTMR2):c.1593+1G>A rs1590970875
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC rs1555056865
NM_016156.6(MTMR2):c.186+19A>T rs12385798
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe) rs1356220463
NM_016156.6(MTMR2):c.308G>A (p.Gly103Glu) rs1590997541
NM_016156.6(MTMR2):c.324del (p.Asn109fs) rs1590997478
NM_016156.6(MTMR2):c.358-2A>T rs1590997186
NM_016156.6(MTMR2):c.358-39_358-16del rs1864444648
NM_016156.6(MTMR2):c.358-42_358-18del rs1864444752
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016156.6(MTMR2):c.684A>G (p.Thr228=) rs116484470
NM_016156.6(MTMR2):c.841_844del (p.Ile281fs) rs1590983942
NM_016156.6(MTMR2):c.847C>T (p.Arg283Trp) rs1590983932

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.