ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_016156.5(MTMR2):c.*1089C>G rs147982779
NM_016156.5(MTMR2):c.*1684A>C rs79576160
NM_016156.5(MTMR2):c.*2187A>G rs141738388
NM_016156.5(MTMR2):c.*837G>A rs532069328
NM_016156.5(MTMR2):c.1303T>C (p.Leu435=) rs767737380
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) rs139369561
NM_016156.5(MTMR2):c.1488C>T (p.Thr496=) rs112327353
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser) rs558018
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) rs149476960
NM_016156.5(MTMR2):c.1757G>A (p.Arg586Gln) rs61735576
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.184_186del (p.Arg62del) rs141498429
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.469-9C>A rs779741464
NM_016156.5(MTMR2):c.507G>A (p.Gly169=) rs753188177
NM_016156.5(MTMR2):c.624A>G (p.Leu208=) rs979063255
NM_016156.5(MTMR2):c.655-7C>T rs775390447
NM_016156.5(MTMR2):c.75G>A (p.Leu25=) rs1376231939
NM_016156.6(MTMR2):c.-16C>T
NM_016156.6(MTMR2):c.1281C>A (p.Leu427=) rs199542109
NM_016156.6(MTMR2):c.1387-19T>G
NM_016156.6(MTMR2):c.1480-4G>C rs1590971136
NM_016156.6(MTMR2):c.1594-20C>A
NM_016156.6(MTMR2):c.1770+7G>C rs908222470
NM_016156.6(MTMR2):c.1770+9_1770+20del rs958180213
NM_016156.6(MTMR2):c.33C>T (p.Gly11=) rs777455436
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.984T>C (p.Val328=) rs116691712

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