ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
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.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.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_016156.6(MTMR2):c.297C>T (p.Gly99=) rs772347980 0.00002
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.-16C>T rs1312979957
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC rs1555056865
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.684A>G (p.Thr228=) rs116484470

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