ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.*1419G>A rs496305 0.27825
NM_016156.6(MTMR2):c.*1934T>C rs525404 0.27753
NM_016156.6(MTMR2):c.*1568C>T rs596277 0.27751
NM_016156.6(MTMR2):c.*549G>A rs611020 0.27729
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_016156.6(MTMR2):c.*1066T>C rs16922622 0.07419
NM_016156.6(MTMR2):c.*1396C>T rs16922615 0.07185
NM_016156.6(MTMR2):c.*1444C>G rs149223349 0.04087
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=) rs61735577 0.04066
NM_016156.6(MTMR2):c.*2014T>G rs112404010 0.03885
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.*2406C>T rs16922613 0.01655
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_016156.6(MTMR2):c.*1952G>A rs118033833 0.01538
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_016156.6(MTMR2):c.*85A>C rs578159 0.01009
NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser) rs142155860 0.00492
NM_016156.6(MTMR2):c.*1684A>C rs79576160 0.00401
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_016156.6(MTMR2):c.*837G>A rs532069328 0.00323
NM_016156.6(MTMR2):c.*1826C>A rs145394232 0.00242
NM_016156.6(MTMR2):c.*2187A>G rs141738388 0.00241
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=) rs112327353 0.00216
NM_016156.6(MTMR2):c.*825G>A rs192257681 0.00201
NM_016156.6(MTMR2):c.*207A>G rs185702937 0.00170
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_016156.6(MTMR2):c.*212A>C rs372852182 0.00074
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.-81G>A rs772112416 0.00036
NM_016156.6(MTMR2):c.*1089C>G rs147982779 0.00031
NM_016156.6(MTMR2):c.*910T>A rs555290971 0.00015
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.*133C>G rs367677499 0.00013
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val) rs149476960 0.00010
NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770 0.00010
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_016156.6(MTMR2):c.1431G>A (p.Ser477=) rs200285624 0.00006
NM_016156.6(MTMR2):c.1551C>T (p.Phe517=) rs775961979 0.00005
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr) rs879253940 0.00005
NM_016156.6(MTMR2):c.*2042G>C rs923425383 0.00004
NM_016156.6(MTMR2):c.655-8A>G rs768562214 0.00004
NM_016156.6(MTMR2):c.*1150C>T rs886048766 0.00003
NM_016156.6(MTMR2):c.*190G>A rs886048769 0.00003
NM_016156.6(MTMR2):c.*335T>C rs1565341245 0.00003
NM_016156.6(MTMR2):c.*660G>A rs886048768 0.00002
NM_016156.6(MTMR2):c.-89C>G rs868256702 0.00002
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln) rs759086106 0.00002
NM_016156.6(MTMR2):c.*1271A>G rs1863141196 0.00001
NM_016156.6(MTMR2):c.*679A>C rs776788118 0.00001
NM_016156.6(MTMR2):c.-82C>T rs886048773 0.00001
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) rs776757548 0.00001
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402 0.00001
NM_016156.6(MTMR2):c.1339G>A (p.Val447Ile) rs769693714 0.00001
NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys) rs1170327910 0.00001
NM_016156.6(MTMR2):c.162C>T (p.Ala54=) rs547213836 0.00001
NM_016156.6(MTMR2):c.213A>G (p.Ala71=) rs1402885565 0.00001
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 0.00001
NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter) rs1171462240 0.00001
NM_016156.5(MTMR2):c.-222G>C rs746848952
NM_016156.6(MTMR2):c.*1036C>T rs1863154187
NM_016156.6(MTMR2):c.*1249G>A rs1863142451
NM_016156.6(MTMR2):c.*1339T>G rs547240331
NM_016156.6(MTMR2):c.*1425A>G rs886048764
NM_016156.6(MTMR2):c.*1656T>G rs1006542556
NM_016156.6(MTMR2):c.*1822T>G rs562826516
NM_016156.6(MTMR2):c.*2038C>G rs886048763
NM_016156.6(MTMR2):c.*239A>T rs574781741
NM_016156.6(MTMR2):c.*810C>G rs1863164114
NM_016156.6(MTMR2):c.*987T>C rs57807625
NM_016156.6(MTMR2):c.1096del (p.Lys367fs)
NM_016156.6(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
NM_016156.6(MTMR2):c.1479+1G>A rs1590974546
NM_016156.6(MTMR2):c.1490dup (p.Phe498fs) rs1590971080
NM_016156.6(MTMR2):c.1492T>C (p.Phe498Leu)
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs) rs1555057316
NM_016156.6(MTMR2):c.1593+1G>A rs1590970875
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs) rs1863269109
NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter) rs1565342506
NM_016156.6(MTMR2):c.212C>T (p.Ala71Val) rs886048772
NM_016156.6(MTMR2):c.25_26del (p.Leu10fs) rs1591060788
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile) rs1864455547
NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter) rs115506357
NM_016156.6(MTMR2):c.323C>T (p.Thr108Met)
NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg) rs1864436629
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) rs769429967
NM_016156.6(MTMR2):c.771_772del (p.Arg257fs)
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_016156.6(MTMR2):c.94C>G (p.His32Asp) rs1591025020

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