ClinVar Miner

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

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Total variants: 49
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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.*53G>A rs587779387
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1343T>C (p.Leu448Pro) rs1590978277
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) rs139369561
NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) rs142460913
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) rs149476960
NM_016156.5(MTMR2):c.1749G>A (p.Trp583Ter) rs1590968942
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.1770+3A>G rs756909627
NM_016156.5(MTMR2):c.1770+7_1770+19delinsC rs1555056865
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638
NM_016156.5(MTMR2):c.186+9A>G rs371081575
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152
NM_016156.5(MTMR2):c.240A>C (p.Pro80=) rs201920176
NM_016156.5(MTMR2):c.279T>C (p.Tyr93=) rs372937811
NM_016156.5(MTMR2):c.297C>T (p.Gly99=) rs772347980
NM_016156.5(MTMR2):c.308G>A (p.Gly103Glu) rs1590997541
NM_016156.5(MTMR2):c.358-2A>T rs1590997186
NM_016156.5(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) rs587779385
NM_016156.5(MTMR2):c.841_844del (p.Ile281fs) rs1590983942
NM_016156.5(MTMR2):c.847C>T (p.Arg283Trp) rs1590983932
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) rs200898934
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_016156.6(MTMR2):c.*17G>A
NM_016156.6(MTMR2):c.-15T>C
NM_016156.6(MTMR2):c.-16C>T
NM_016156.6(MTMR2):c.1387-19T>G
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
NM_016156.6(MTMR2):c.1534del (p.Leu512fs) rs1590970977
NM_016156.6(MTMR2):c.1593+1G>A rs1590970875
NM_016156.6(MTMR2):c.1594-20C>A
NM_016156.6(MTMR2):c.186+19A>T
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe)
NM_016156.6(MTMR2):c.324del (p.Asn109fs) rs1590997478
NM_016156.6(MTMR2):c.358-39_358-16del
NM_016156.6(MTMR2):c.358-42_358-18del
NM_016156.6(MTMR2):c.654+5G>A
NM_016156.6(MTMR2):c.655-19T>C
NM_016156.6(MTMR2):c.684A>G (p.Thr228=)
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val)

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