List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 1C by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 94

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HGVS	dbSNP	gnomAD frequency
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.448A>C (p.Asn150His)	rs764014476	0.00009
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys)	rs375665454	0.00008
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.*185T>C	rs565356536	0.00005
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.239A>G (p.Tyr80Cys)	rs539627278	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.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.479G>A (p.Arg160His)	rs864622744	0.00002
NM_001136472.2(LITAF):c.124G>T (p.Gly42Trp)	rs775942980	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.251C>T (p.Pro84Leu)	rs761746674	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.386C>T (p.Ala129Val)	rs201512884	0.00001
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr)	rs368574479	0.00001
NC_000016.10:g.(?_11549637)_(11556730_?)dup
NC_000016.9:g.(?_11643473)_(11650606_?)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.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.226G>T (p.Val76Leu)	rs371334679
NM_001136472.2(LITAF):c.232A>G (p.Thr78Ala)
NM_001136472.2(LITAF):c.236T>C (p.Val79Ala)	rs1597329501
NM_001136472.2(LITAF):c.241G>T (p.Val81Leu)
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.283T>C (p.Cys95Arg)	rs2064218551
NM_001136472.2(LITAF):c.284G>A (p.Cys95Tyr)
NM_001136472.2(LITAF):c.310G>T (p.Val104Leu)	rs373445989
NM_001136472.2(LITAF):c.332C>T (p.Ala111Val)	rs281865134
NM_001136472.2(LITAF):c.335G>A (p.Gly112Asp)
NM_001136472.2(LITAF):c.340C>G (p.Leu114Val)	rs1567235442
NM_001136472.2(LITAF):c.348G>C (p.Trp116Cys)
NM_001136472.2(LITAF):c.358G>A (p.Gly120Arg)
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.382A>G (p.Ile128Val)
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr)	rs797044847
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.3G>A (p.Met1Ile)	rs560130408
NM_001136472.2(LITAF):c.3G>T (p.Met1Ile)
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>T (p.Gln142Ter)	rs1174214039
NM_001136472.2(LITAF):c.429C>A (p.Asp143Glu)	rs374918259
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.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>T (p.Pro17Leu)
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.85G>A (p.Val29Ile)	rs767809270

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