ClinVar Miner

List of variants in gene MTMR2 studied for Charcot-Marie-Tooth disease type 4B1

Included ClinVar conditions (1):
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Total variants: 82
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HGVS dbSNP
MTMR2, 10-BP DEL/2-BP INS
MTMR2, IVS13, G-A, +1
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.*1066T>C rs16922622
NM_016156.5(MTMR2):c.*1089C>G rs147982779
NM_016156.5(MTMR2):c.*1150C>T rs886048766
NM_016156.5(MTMR2):c.*133C>G rs367677499
NM_016156.5(MTMR2):c.*1396C>T rs16922615
NM_016156.5(MTMR2):c.*1419G>A rs496305
NM_016156.5(MTMR2):c.*1425A>G rs886048764
NM_016156.5(MTMR2):c.*1444C>G rs149223349
NM_016156.5(MTMR2):c.*1568C>T rs596277
NM_016156.5(MTMR2):c.*1684A>C rs79576160
NM_016156.5(MTMR2):c.*1822T>G rs562826516
NM_016156.5(MTMR2):c.*1826C>A rs145394232
NM_016156.5(MTMR2):c.*190G>A rs886048769
NM_016156.5(MTMR2):c.*1934T>C rs525404
NM_016156.5(MTMR2):c.*1952G>A rs118033833
NM_016156.5(MTMR2):c.*2014T>G rs112404010
NM_016156.5(MTMR2):c.*2038C>G rs886048763
NM_016156.5(MTMR2):c.*207A>G rs185702937
NM_016156.5(MTMR2):c.*2187A>G rs141738388
NM_016156.5(MTMR2):c.*2406C>T rs16922613
NM_016156.5(MTMR2):c.*549G>A rs611020
NM_016156.5(MTMR2):c.*660G>A rs886048768
NM_016156.5(MTMR2):c.*679A>C rs776788118
NM_016156.5(MTMR2):c.*837G>A rs532069328
NM_016156.5(MTMR2):c.*85A>C rs578159
NM_016156.5(MTMR2):c.*910T>A rs555290971
NM_016156.5(MTMR2):c.*987T>C rs57807625
NM_016156.5(MTMR2):c.-222G>C rs746848952
NM_016156.5(MTMR2):c.-82C>T rs886048773
NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile) rs769693714
NM_016156.5(MTMR2):c.1431G>A (p.Ser477=) rs200285624
NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
NM_016156.5(MTMR2):c.1479+1G>A rs1590974546
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.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.1768C>T (p.Gln590Ter) rs1565342506
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152
NM_016156.5(MTMR2):c.212C>T (p.Ala71Val) rs886048772
NM_016156.5(MTMR2):c.240A>C (p.Pro80=) rs201920176
NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser) rs142155860
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.655-8A>G rs768562214
NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr) rs879253940
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
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.*1036C>T
NM_016156.6(MTMR2):c.*1249G>A
NM_016156.6(MTMR2):c.*1271A>G
NM_016156.6(MTMR2):c.*1339T>G
NM_016156.6(MTMR2):c.*1656T>G
NM_016156.6(MTMR2):c.*2042G>C
NM_016156.6(MTMR2):c.*212A>C
NM_016156.6(MTMR2):c.*239A>T
NM_016156.6(MTMR2):c.*335T>C
NM_016156.6(MTMR2):c.*810C>G
NM_016156.6(MTMR2):c.*825G>A
NM_016156.6(MTMR2):c.-81G>A
NM_016156.6(MTMR2):c.-89C>G
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) rs776757548
NM_016156.6(MTMR2):c.1490dup (p.Phe498fs) rs1590971080
NM_016156.6(MTMR2):c.162C>T (p.Ala54=)
NM_016156.6(MTMR2):c.23_24AG[1] (p.Leu10fs) rs1591060788
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile)
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) rs769429967
NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter) rs1171462240

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