ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 1C by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_001136472.2(LITAF):c.234G>A (p.Thr78=) rs9282774 0.00987
NM_001136472.2(LITAF):c.333C>T (p.Ala111=) rs34448402 0.00256
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_001136472.2(LITAF):c.330C>T (p.Asn110=) rs139116481 0.00062
NM_001136472.2(LITAF):c.377+13C>G rs200357430 0.00058
NM_001136472.2(LITAF):c.6G>A (p.Ser2=) rs147187481 0.00052
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu) rs138041990 0.00031
NM_001136472.2(LITAF):c.32C>T (p.Thr11Ile) rs200702853 0.00025
NM_001136472.2(LITAF):c.108T>G (p.Pro36=) rs140990446 0.00024
NM_001136472.2(LITAF):c.226G>A (p.Val76Met) rs371334679 0.00021
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg) rs201283647 0.00020
NM_001136472.2(LITAF):c.241G>A (p.Val81Met) rs201653834 0.00018
NM_001136472.2(LITAF):c.448A>C (p.Asn150His) rs764014476 0.00009
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys) rs375665454 0.00008
NM_001136472.2(LITAF):c.27G>A (p.Ala9=) rs149518815 0.00008
NM_001136472.2(LITAF):c.147G>A (p.Thr49=) rs145659732 0.00006
NM_001136472.2(LITAF):c.197C>T (p.Ala66Val) rs140714668 0.00006
NM_001136472.2(LITAF):c.310G>A (p.Val104Met) rs373445989 0.00006
NM_001136472.2(LITAF):c.45A>G (p.Ser15=) rs112192052 0.00006
NM_001136472.2(LITAF):c.54C>T (p.Ser18=) rs150211233 0.00006
NM_001136472.2(LITAF):c.*185T>C rs565356536 0.00005
NM_001136472.2(LITAF):c.477G>A (p.Lys159=) rs371453151 0.00005
NM_001136472.2(LITAF):c.96T>C (p.Tyr32=) rs756187413 0.00005
NM_001136472.2(LITAF):c.135G>A (p.Thr45=) rs758166691 0.00004
NM_001136472.2(LITAF):c.198G>A (p.Ala66=) rs146888937 0.00004
NM_001136472.2(LITAF):c.221-16C>T rs778890222 0.00004
NM_001136472.2(LITAF):c.179C>T (p.Ser60Leu) rs765644026 0.00003
NM_001136472.2(LITAF):c.209A>G (p.Asn70Ser) rs746577483 0.00003
NM_001136472.2(LITAF):c.220+4C>T rs771956181 0.00003
NM_001136472.2(LITAF):c.225C>T (p.Thr75=) rs373639052 0.00003
NM_001136472.2(LITAF):c.239A>G (p.Tyr80Cys) rs539627278 0.00003
NM_001136472.2(LITAF):c.240C>T (p.Tyr80=) rs149184234 0.00003
NM_001136472.2(LITAF):c.357C>T (p.Cys119=) rs549492447 0.00003
NM_001136472.2(LITAF):c.411C>T (p.Cys137=) rs748118642 0.00003
NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr) rs543022814 0.00003
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr) rs759905004 0.00002
NM_001136472.2(LITAF):c.115C>T (p.Pro39Ser) rs375202318 0.00002
NM_001136472.2(LITAF):c.351G>C (p.Leu117=) rs372220196 0.00002
NM_001136472.2(LITAF):c.378-3C>T rs774213197 0.00002
NM_001136472.2(LITAF):c.410G>A (p.Cys137Tyr) rs144232569 0.00002
NM_001136472.2(LITAF):c.418G>A (p.Ala140Thr) rs754821950 0.00002
NM_001136472.2(LITAF):c.420C>T (p.Ala140=) rs750617013 0.00002
NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys) rs748017885 0.00002
NM_001136472.2(LITAF):c.479G>A (p.Arg160His) rs864622744 0.00002
NM_001136472.2(LITAF):c.102C>A (p.Pro34=) rs369748649 0.00001
NM_001136472.2(LITAF):c.124G>T (p.Gly42Trp) rs775942980 0.00001
NM_001136472.2(LITAF):c.12A>G (p.Pro4=) rs760120748 0.00001
NM_001136472.2(LITAF):c.151C>T (p.Pro51Ser) rs752978718 0.00001
NM_001136472.2(LITAF):c.157G>A (p.Gly53Arg) rs755155866 0.00001
NM_001136472.2(LITAF):c.172C>T (p.Pro58Ser) rs1342498271 0.00001
NM_001136472.2(LITAF):c.173C>T (p.Pro58Leu) rs1313689306 0.00001
NM_001136472.2(LITAF):c.17C>T (p.Pro6Leu) rs774532093 0.00001
NM_001136472.2(LITAF):c.223A>G (p.Thr75Ala) rs756539992 0.00001
NM_001136472.2(LITAF):c.233C>T (p.Thr78Met) rs1228516620 0.00001
NM_001136472.2(LITAF):c.243G>A (p.Val81=) rs765108397 0.00001
NM_001136472.2(LITAF):c.251C>T (p.Pro84Leu) rs761746674 0.00001
NM_001136472.2(LITAF):c.25G>A (p.Ala9Thr) rs1267030887 0.00001
NM_001136472.2(LITAF):c.269G>A (p.Arg90His) rs200789696 0.00001
NM_001136472.2(LITAF):c.26C>T (p.Ala9Val) rs529766640 0.00001
NM_001136472.2(LITAF):c.369C>T (p.Cys123=) rs762993631 0.00001
NM_001136472.2(LITAF):c.377+3G>A rs202181952 0.00001
NM_001136472.2(LITAF):c.386C>T (p.Ala129Val) rs201512884 0.00001
NM_001136472.2(LITAF):c.399C>T (p.Phe133=) rs1012676457 0.00001
NM_001136472.2(LITAF):c.481T>C (p.Leu161=) rs376296739 0.00001
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr) rs368574479 0.00001
NM_001136472.2(LITAF):c.99C>T (p.Tyr33=) rs767658806 0.00001
NC_000016.10:g.(?_11549637)_(11556730_?)dup
NC_000016.9:g.(?_11643473)_(11650606_?)dup
NC_000016.9:g.(?_11643493)_(11643621_?)dup
NC_000016.9:g.(?_11643493)_(11650586_?)del
NC_000016.9:g.(?_11647369)_(11647565_?)dup
NC_000016.9:g.(?_11650347)_(11650606_?)del
NC_000016.9:g.(?_8829597)_(11650586_?)dup
NM_001136472.2(LITAF):c.100C>T (p.Pro34Ser)
NM_001136472.2(LITAF):c.112G>A (p.Ala38Thr)
NM_001136472.2(LITAF):c.129A>G (p.Pro43=)
NM_001136472.2(LITAF):c.132_172del (p.Thr45fs)
NM_001136472.2(LITAF):c.134C>T (p.Thr45Met)
NM_001136472.2(LITAF):c.143T>C (p.Val48Ala)
NM_001136472.2(LITAF):c.149G>T (p.Gly50Val)
NM_001136472.2(LITAF):c.168del (p.Met56fs) rs2064272514
NM_001136472.2(LITAF):c.176C>G (p.Pro59Arg)
NM_001136472.2(LITAF):c.182A>G (p.Tyr61Cys) rs2141716501
NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser) rs2064271547
NM_001136472.2(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136472.2(LITAF):c.215A>G (p.Asn72Ser)
NM_001136472.2(LITAF):c.217C>T (p.Pro73Ser)
NM_001136472.2(LITAF):c.220+12del
NM_001136472.2(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_001136472.2(LITAF):c.230A>G (p.Gln77Arg)
NM_001136472.2(LITAF):c.232A>G (p.Thr78Ala)
NM_001136472.2(LITAF):c.236T>C (p.Val79Ala) rs1597329501
NM_001136472.2(LITAF):c.237C>G (p.Val79=)
NM_001136472.2(LITAF):c.241G>T (p.Val81Leu)
NM_001136472.2(LITAF):c.253A>G (p.Ile85Val)
NM_001136472.2(LITAF):c.270C>T (p.Arg90=)
NM_001136472.2(LITAF):c.271C>T (p.Pro91Ser)
NM_001136472.2(LITAF):c.272C>G (p.Pro91Arg) rs11544251
NM_001136472.2(LITAF):c.272C>T (p.Pro91Leu) rs11544251
NM_001136472.2(LITAF):c.282G>C (p.Met94Ile)
NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg) rs2064218551
NM_001136472.2(LITAF):c.284G>A (p.Cys95Tyr)
NM_001136472.2(LITAF):c.285T>C (p.Cys95=)
NM_001136472.2(LITAF):c.309C>T (p.Ile103=)
NM_001136472.2(LITAF):c.310G>T (p.Val104Leu) rs373445989
NM_001136472.2(LITAF):c.327T>C (p.Tyr109=)
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136472.2(LITAF):c.332C>T (p.Ala111Val) rs281865134
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.335G>A (p.Gly112Asp)
NM_001136472.2(LITAF):c.339T>C (p.Ala113=)
NM_001136472.2(LITAF):c.340C>G (p.Leu114Val) rs1567235442
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136472.2(LITAF):c.344C>T (p.Thr115Ile)
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001136472.2(LITAF):c.348G>C (p.Trp116Cys)
NM_001136472.2(LITAF):c.351G>T (p.Leu117=)
NM_001136472.2(LITAF):c.358G>A (p.Gly120Arg)
NM_001136472.2(LITAF):c.364C>T (p.Leu122=) rs104894522
NM_001136472.2(LITAF):c.371T>C (p.Leu124Pro) rs1597329148
NM_001136472.2(LITAF):c.374T>C (p.Leu125Pro) rs2064215657
NM_001136472.2(LITAF):c.377+10C>T rs2064215359
NM_001136472.2(LITAF):c.377+11C>T
NM_001136472.2(LITAF):c.377+15C>T
NM_001136472.2(LITAF):c.378-22GT[2]
NM_001136472.2(LITAF):c.378-7C>T rs969563231
NM_001136472.2(LITAF):c.381C>T (p.Cys127=)
NM_001136472.2(LITAF):c.382A>G (p.Ile128Val)
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr) rs797044847
NM_001136472.2(LITAF):c.387G>A (p.Ala129=)
NM_001136472.2(LITAF):c.388G>T (p.Gly130Cys) rs879254325
NM_001136472.2(LITAF):c.389G>C (p.Gly130Ala) rs2141682573
NM_001136472.2(LITAF):c.392G>A (p.Cys131Tyr)
NM_001136472.2(LITAF):c.39T>G (p.Pro13=) rs1597333130
NM_001136472.2(LITAF):c.3G>A (p.Met1Ile) rs560130408
NM_001136472.2(LITAF):c.3G>T (p.Met1Ile)
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr) rs281865135
NM_001136472.2(LITAF):c.404C>T (p.Pro135Leu) rs797044848
NM_001136472.2(LITAF):c.407T>C (p.Phe136Ser) rs2141682435
NM_001136472.2(LITAF):c.409T>C (p.Cys137Arg) rs2064155943
NM_001136472.2(LITAF):c.409T>G (p.Cys137Gly) rs2064155943
NM_001136472.2(LITAF):c.412G>A (p.Val138Met) rs780788687
NM_001136472.2(LITAF):c.415G>C (p.Asp139His)
NM_001136472.2(LITAF):c.424C>G (p.Gln142Glu)
NM_001136472.2(LITAF):c.424C>T (p.Gln142Ter) rs1174214039
NM_001136472.2(LITAF):c.427G>T (p.Asp143Tyr)
NM_001136472.2(LITAF):c.429C>A (p.Asp143Glu) rs374918259
NM_001136472.2(LITAF):c.429C>T (p.Asp143=)
NM_001136472.2(LITAF):c.430G>T (p.Val144Leu) rs121908615
NM_001136472.2(LITAF):c.449A>G (p.Asn150Ser)
NM_001136472.2(LITAF):c.450C>A (p.Asn150Lys)
NM_001136472.2(LITAF):c.450C>G (p.Asn150Lys)
NM_001136472.2(LITAF):c.458C>T (p.Ala153Val)
NM_001136472.2(LITAF):c.462C>G (p.Leu154=)
NM_001136472.2(LITAF):c.468C>T (p.Gly156=) rs774123275
NM_001136472.2(LITAF):c.46G>T (p.Ala16Ser) rs2064275795
NM_001136472.2(LITAF):c.470C>G (p.Thr157Ser)
NM_001136472.2(LITAF):c.473A>G (p.Tyr158Cys) rs772527709
NM_001136472.2(LITAF):c.483G>C (p.Leu161Phe)
NM_001136472.2(LITAF):c.50C>A (p.Pro17Gln)
NM_001136472.2(LITAF):c.50C>T (p.Pro17Leu)
NM_001136472.2(LITAF):c.51A>G (p.Pro17=) rs751525365
NM_001136472.2(LITAF):c.55G>A (p.Ala19Thr) rs753060675
NM_001136472.2(LITAF):c.56C>T (p.Ala19Val)
NM_001136472.2(LITAF):c.5C>T (p.Ser2Leu)
NM_001136472.2(LITAF):c.82G>A (p.Ala28Thr)
NM_001136472.2(LITAF):c.85G>A (p.Val29Ile) rs767809270

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