ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2P by Invitae

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ClinVar version:
Total variants: 189
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HGVS dbSNP
NC_000009.12:g.(?_127454518)_(127502909_?)dup
NC_000009.12:g.(?_127461163)_(127473941_?)del
NC_000009.12:g.(?_127502774)_(127503501_?)del
NM_001005373.4(LRSAM1):c.1055G>T (p.Ser352Ile)
NM_001005373.4(LRSAM1):c.1081A>C (p.Asn361His)
NM_001005373.4(LRSAM1):c.1082A>G (p.Asn361Ser)
NM_001005373.4(LRSAM1):c.1355T>C (p.Met452Thr)
NM_001005373.4(LRSAM1):c.1567C>G (p.Gln523Glu)
NM_001005373.4(LRSAM1):c.1599G>A (p.Leu533=)
NM_001005373.4(LRSAM1):c.182T>C (p.Ile61Thr)
NM_001005373.4(LRSAM1):c.1886T>G (p.Leu629Arg)
NM_001005373.4(LRSAM1):c.1930G>A (p.Gly644Ser)
NM_001005373.4(LRSAM1):c.1956_1957dup (p.Gln653fs)
NM_001005373.4(LRSAM1):c.2046_2046+12del
NM_001005373.4(LRSAM1):c.2060T>C (p.Phe687Ser)
NM_001005373.4(LRSAM1):c.2074C>G (p.His692Asp)
NM_001005373.4(LRSAM1):c.2086T>A (p.Cys696Ser)
NM_001005373.4(LRSAM1):c.2128C>T (p.Arg710Cys)
NM_001005373.4(LRSAM1):c.2129G>A (p.Arg710His)
NM_001005373.4(LRSAM1):c.22C>T (p.Arg8Trp)
NM_001005373.4(LRSAM1):c.275A>G (p.Gln92Arg)
NM_001005373.4(LRSAM1):c.323T>C (p.Val108Ala)
NM_001005373.4(LRSAM1):c.355C>G (p.Leu119Val)
NM_001005373.4(LRSAM1):c.382C>T (p.Gln128Ter)
NM_001005373.4(LRSAM1):c.436G>A (p.Val146Met)
NM_001005373.4(LRSAM1):c.457C>T (p.Arg153Cys)
NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys)
NM_001005373.4(LRSAM1):c.514G>A (p.Val172Ile)
NM_001005373.4(LRSAM1):c.521C>T (p.Thr174Ile)
NM_001005373.4(LRSAM1):c.541G>C (p.Asp181His)
NM_001005373.4(LRSAM1):c.720C>G (p.Asp240Glu)
NM_001005373.4(LRSAM1):c.735G>C (p.Glu245Asp)
NM_001005373.4(LRSAM1):c.805G>A (p.Glu269Lys)
NM_001005373.4(LRSAM1):c.823G>A (p.Glu275Lys)
NM_001005373.4(LRSAM1):c.914G>A (p.Arg305Gln)
NM_001005373.4(LRSAM1):c.951_952inv (p.Asn318Asp)
NM_138361.5(LRSAM1):c.1013G>A (p.Arg338Gln) rs762000052
NM_138361.5(LRSAM1):c.1035C>G (p.Asp345Glu) rs766701971
NM_138361.5(LRSAM1):c.1037A>G (p.Asn346Ser) rs1188237904
NM_138361.5(LRSAM1):c.103G>A (p.Asp35Asn) rs551183702
NM_138361.5(LRSAM1):c.1043+5G>A rs780868977
NM_138361.5(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164
NM_138361.5(LRSAM1):c.1060G>A (p.Glu354Lys) rs773122117
NM_138361.5(LRSAM1):c.1067T>C (p.Leu356Ser) rs142958539
NM_138361.5(LRSAM1):c.1076T>G (p.Leu359Arg) rs1466479388
NM_138361.5(LRSAM1):c.1088+1G>C rs765641195
NM_138361.5(LRSAM1):c.1091T>C (p.Ile364Thr) rs1588123900
NM_138361.5(LRSAM1):c.1102C>G (p.Gln368Glu) rs776814240
NM_138361.5(LRSAM1):c.1109T>C (p.Met370Thr) rs377079293
NM_138361.5(LRSAM1):c.1142G>A (p.Arg381Gln) rs145877456
NM_138361.5(LRSAM1):c.1145G>A (p.Arg382Gln) rs369596799
NM_138361.5(LRSAM1):c.1147C>T (p.Arg383Cys)
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877
NM_138361.5(LRSAM1):c.1160C>A (p.Ser387Tyr) rs758094270
NM_138361.5(LRSAM1):c.1162G>A (p.Ala388Thr) rs138715791
NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223
NM_138361.5(LRSAM1):c.122T>C (p.Leu41Pro) rs762731732
NM_138361.5(LRSAM1):c.1236C>A (p.Asn412Lys) rs186139632
NM_138361.5(LRSAM1):c.1264G>T (p.Ala422Ser) rs372452916
NM_138361.5(LRSAM1):c.1270A>G (p.Met424Val)
NM_138361.5(LRSAM1):c.1332C>A (p.Ser444Arg)
NM_138361.5(LRSAM1):c.1347+3G>T
NM_138361.5(LRSAM1):c.1347+5G>A rs368570954
NM_138361.5(LRSAM1):c.1347+6C>T rs1588128875
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_138361.5(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173
NM_138361.5(LRSAM1):c.1367C>T (p.Ala456Val) rs1299851938
NM_138361.5(LRSAM1):c.13T>C (p.Phe5Leu) rs201473713
NM_138361.5(LRSAM1):c.1405C>T (p.Arg469Trp)
NM_138361.5(LRSAM1):c.1422+6C>T rs745690669
NM_138361.5(LRSAM1):c.1430T>C (p.Leu477Ser)
NM_138361.5(LRSAM1):c.1498C>T (p.Leu500Phe) rs749192098
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1510A>T (p.Ile504Phe) rs1472578658
NM_138361.5(LRSAM1):c.1514C>T (p.Ser505Leu) rs146106537
NM_138361.5(LRSAM1):c.1522C>T (p.Arg508Cys)
NM_138361.5(LRSAM1):c.1537T>C (p.Ser513Pro) rs748161826
NM_138361.5(LRSAM1):c.1541T>A (p.Leu514Gln)
NM_138361.5(LRSAM1):c.1544T>A (p.Leu515His)
NM_138361.5(LRSAM1):c.1588C>T (p.Arg530Trp) rs772793971
NM_138361.5(LRSAM1):c.1589G>A (p.Arg530Gln) rs760321710
NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662
NM_138361.5(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185
NM_138361.5(LRSAM1):c.1698A>G (p.Gln566=)
NM_138361.5(LRSAM1):c.1699-3C>T
NM_138361.5(LRSAM1):c.16C>T (p.Arg6Trp)
NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys)
NM_138361.5(LRSAM1):c.1715G>A (p.Arg572His)
NM_138361.5(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646
NM_138361.5(LRSAM1):c.1730T>C (p.Leu577Pro)
NM_138361.5(LRSAM1):c.173A>G (p.Lys58Arg)
NM_138361.5(LRSAM1):c.1747G>A (p.Ala583Thr) rs1202628332
NM_138361.5(LRSAM1):c.1757A>G (p.Tyr586Cys)
NM_138361.5(LRSAM1):c.176T>C (p.Val59Ala)
NM_138361.5(LRSAM1):c.1773_1774delinsAA (p.His592Asn)
NM_138361.5(LRSAM1):c.1780C>T (p.Arg594Cys) rs150062009
NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) rs537838691
NM_138361.5(LRSAM1):c.17G>A (p.Arg6Gln) rs778740625
NM_138361.5(LRSAM1):c.1802G>C (p.Ser601Thr) rs201137230
NM_138361.5(LRSAM1):c.1806A>T (p.Gln602His) rs1462342285
NM_138361.5(LRSAM1):c.1819G>T (p.Asp607Tyr)
NM_138361.5(LRSAM1):c.1831G>A (p.Val611Met)
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085
NM_138361.5(LRSAM1):c.1849G>T (p.Gly617Cys)
NM_138361.5(LRSAM1):c.184G>A (p.Val62Ile) rs570688892
NM_138361.5(LRSAM1):c.1870C>G (p.Arg624Gly) rs375938990
NM_138361.5(LRSAM1):c.1870C>T (p.Arg624Trp)
NM_138361.5(LRSAM1):c.1871G>A (p.Arg624Gln)
NM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly) rs574202204
NM_138361.5(LRSAM1):c.1892A>G (p.Asp631Gly) rs1564283787
NM_138361.5(LRSAM1):c.1905C>G (p.Ile635Met) rs369161790
NM_138361.5(LRSAM1):c.1912+4_1912+5delinsTC
NM_138361.5(LRSAM1):c.1921C>T (p.Pro641Ser) rs1479286608
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_138361.5(LRSAM1):c.1936G>A (p.Val646Ile) rs748358043
NM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile) rs879254326
NM_138361.5(LRSAM1):c.1949C>T (p.Thr650Met)
NM_138361.5(LRSAM1):c.1952C>T (p.Ala651Val) rs777233045
NM_138361.5(LRSAM1):c.1963C>T (p.Pro655Ser) rs1291622809
NM_138361.5(LRSAM1):c.1993C>G (p.Pro665Ala)
NM_138361.5(LRSAM1):c.2009T>C (p.Val670Ala)
NM_138361.5(LRSAM1):c.2029_2046+7del
NM_138361.5(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_138361.5(LRSAM1):c.2041C>T (p.Arg681Trp) rs773899723
NM_138361.5(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340
NM_138361.5(LRSAM1):c.2042G>C (p.Arg681Pro) rs143479340
NM_138361.5(LRSAM1):c.2043_2044dup (p.Glu682fs) rs1554762671
NM_138361.5(LRSAM1):c.2046G>A (p.Glu682=)
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.206C>G (p.Ser69Cys) rs942116544
NM_138361.5(LRSAM1):c.2076C>A (p.His692Gln) rs753650841
NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_138361.5(LRSAM1):c.2095T>C (p.Cys699Arg) rs1341295542
NM_138361.5(LRSAM1):c.2108T>C (p.Leu703Pro) rs1588144691
NM_138361.5(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897
NM_138361.5(LRSAM1):c.2119C>T (p.Pro707Ser) rs1588144707
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_138361.5(LRSAM1):c.2146C>T (p.Arg716Cys) rs772786050
NM_138361.5(LRSAM1):c.2152C>T (p.Arg718Cys) rs368202093
NM_138361.5(LRSAM1):c.2153G>A (p.Arg718His) rs764890552
NM_138361.5(LRSAM1):c.2161_2163del (p.His721del)
NM_138361.5(LRSAM1):c.21_41dup (p.Pro10_Lys16dup)
NM_138361.5(LRSAM1):c.252+1G>A rs1554753670
NM_138361.5(LRSAM1):c.253G>A (p.Val85Ile)
NM_138361.5(LRSAM1):c.259G>T (p.Asp87Tyr)
NM_138361.5(LRSAM1):c.261T>G (p.Asp87Glu) rs746714138
NM_138361.5(LRSAM1):c.274C>A (p.Gln92Lys)
NM_138361.5(LRSAM1):c.300G>A (p.Leu100=) rs758812956
NM_138361.5(LRSAM1):c.368T>C (p.Ile123Thr)
NM_138361.5(LRSAM1):c.375C>A (p.Asn125Lys) rs779873656
NM_138361.5(LRSAM1):c.382C>A (p.Gln128Lys) rs1168470052
NM_138361.5(LRSAM1):c.388C>T (p.Gln130Ter) rs1554754342
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
NM_138361.5(LRSAM1):c.436G>C (p.Val146Leu) rs555377969
NM_138361.5(LRSAM1):c.44G>A (p.Arg15Gln) rs368646898
NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) rs368689811
NM_138361.5(LRSAM1):c.497C>T (p.Pro166Leu) rs142085060
NM_138361.5(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_138361.5(LRSAM1):c.563C>T (p.Pro188Leu) rs138830549
NM_138361.5(LRSAM1):c.568C>T (p.Arg190Trp)
NM_138361.5(LRSAM1):c.580G>A (p.Gly194Ser) rs1193320677
NM_138361.5(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_138361.5(LRSAM1):c.593C>T (p.Ala198Val) rs758867006
NM_138361.5(LRSAM1):c.598A>G (p.Ile200Val)
NM_138361.5(LRSAM1):c.5C>T (p.Pro2Leu)
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685
NM_138361.5(LRSAM1):c.620-3C>T rs373015900
NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_138361.5(LRSAM1):c.64A>T (p.Met22Leu) rs769236666
NM_138361.5(LRSAM1):c.676G>A (p.Asp226Asn)
NM_138361.5(LRSAM1):c.694C>T (p.Arg232Trp) rs754527468
NM_138361.5(LRSAM1):c.695G>A (p.Arg232Gln) rs778692919
NM_138361.5(LRSAM1):c.716C>T (p.Thr239Met)
NM_138361.5(LRSAM1):c.717G>A (p.Thr239=) rs769930277
NM_138361.5(LRSAM1):c.775A>T (p.Arg259Trp)
NM_138361.5(LRSAM1):c.792G>A (p.Met264Ile)
NM_138361.5(LRSAM1):c.818G>A (p.Arg273His)
NM_138361.5(LRSAM1):c.82G>T (p.Ala28Ser) rs1564248714
NM_138361.5(LRSAM1):c.850C>T (p.Leu284Phe)
NM_138361.5(LRSAM1):c.893C>T (p.Thr298Met) rs747368361
NM_138361.5(LRSAM1):c.89C>A (p.Ala30Glu) rs769070078
NM_138361.5(LRSAM1):c.913C>T (p.Arg305Trp) rs376566243
NM_138361.5(LRSAM1):c.91G>A (p.Asp31Asn) rs1564248731
NM_138361.5(LRSAM1):c.937C>T (p.His313Tyr) rs1588120809
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.962G>A (p.Arg321Gln) rs145881988
NM_138361.5(LRSAM1):c.968G>A (p.Arg323Gln)
NM_138361.5(LRSAM1):c.98T>G (p.Ile33Ser)
NM_138361.5(LRSAM1):c.992C>T (p.Thr331Met)

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