ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NC_000008.11:g.24956763G>C
NC_000008.11:g.24956773G>C
NC_000016.10:g.(?_11549637)_(11556730_?)dup
NC_000016.9:g.(?_11643473)_(11650606_?)dup
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382
NM_000399.5(EGR2):c.*145T>A rs886047091
NM_000399.5(EGR2):c.*150A>G
NM_000399.5(EGR2):c.*230G>T
NM_000399.5(EGR2):c.*456G>A rs886047090
NM_000399.5(EGR2):c.*618T>C
NM_000399.5(EGR2):c.*646C>T rs555024997
NM_000399.5(EGR2):c.*655G>A rs886047089
NM_000399.5(EGR2):c.*79C>A
NM_000399.5(EGR2):c.*919G>C rs886047087
NM_000399.5(EGR2):c.-299G>A
NM_000399.5(EGR2):c.-64A>C
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly) rs886047092
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu) rs932803146
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe) rs886047095
NM_000399.5(EGR2):c.918C>T (p.Ala306=) rs886047094
NM_000399.5(EGR2):c.924C>T (p.Ala308=) rs886047093
NM_000530.8(MPZ):c.*1020G>A rs886045472
NM_000530.8(MPZ):c.*102C>T
NM_000530.8(MPZ):c.*1074A>C rs886045471
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*341A>G
NM_000530.8(MPZ):c.*369C>T
NM_000530.8(MPZ):c.*435T>G
NM_000530.8(MPZ):c.*522C>A
NM_000530.8(MPZ):c.*681A>T rs886045474
NM_000530.8(MPZ):c.*752G>A
NM_000530.8(MPZ):c.*903G>A
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_000530.8(MPZ):c.184A>G (p.Ile62Val)
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
NM_001136473.1(LITAF):c.*1007G>A rs535657236
NM_001136473.1(LITAF):c.*1074A>G rs886051649
NM_001136473.1(LITAF):c.*107C>T rs774123275
NM_001136473.1(LITAF):c.*116G>A rs371453151
NM_001136473.1(LITAF):c.*1179A>C
NM_001136473.1(LITAF):c.*117C>T rs748017885
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*1295A>G rs886051648
NM_001136473.1(LITAF):c.*1342A>C
NM_001136473.1(LITAF):c.*1489A>C
NM_001136473.1(LITAF):c.*1511G>A
NM_001136473.1(LITAF):c.*1524C>A
NM_001136473.1(LITAF):c.*1547A>G
NM_001136473.1(LITAF):c.*1561T>G
NM_001136473.1(LITAF):c.*158G>A
NM_001136473.1(LITAF):c.*1682C>A rs886051647
NM_001136473.1(LITAF):c.*17-3C>T rs774213197
NM_001136473.1(LITAF):c.*2004A>G
NM_001136473.1(LITAF):c.*25C>T rs201512884
NM_001136473.1(LITAF):c.*318G>A rs886051652
NM_001136473.1(LITAF):c.*359C>A
NM_001136473.1(LITAF):c.*419A>T rs886051651
NM_001136473.1(LITAF):c.*43C>T rs797044848
NM_001136473.1(LITAF):c.*48T>C
NM_001136473.1(LITAF):c.*49G>A rs144232569
NM_001136473.1(LITAF):c.*51G>A rs780788687
NM_001136473.1(LITAF):c.*57G>A rs754821950
NM_001136473.1(LITAF):c.*625A>G
NM_001136473.1(LITAF):c.*63C>T rs1174214039
NM_001136473.1(LITAF):c.*688A>C
NM_001136473.1(LITAF):c.*68C>A rs374918259
NM_001136473.1(LITAF):c.*69G>T
NM_001136473.1(LITAF):c.*723G>A rs367546754
NM_001136473.1(LITAF):c.*848A>G rs886051650
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.-6+513G>C
NM_001136473.1(LITAF):c.-6+539G>A rs545189325
NM_001136473.1(LITAF):c.-6+618C>G
NM_001136473.1(LITAF):c.-6+657C>A rs374282727
NM_001136473.1(LITAF):c.100C>A (p.Pro34Thr) rs759905004
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) rs375202318
NM_001136473.1(LITAF):c.124G>T (p.Gly42Trp)
NM_001136473.1(LITAF):c.135G>A (p.Thr45=) rs758166691
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.147G>A (p.Thr49=) rs145659732
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_001136473.1(LITAF):c.157G>A (p.Gly53Arg)
NM_001136473.1(LITAF):c.158G>C (p.Gly53Ala) rs886051654
NM_001136473.1(LITAF):c.159G>A (p.Gly53=) rs886051653
NM_001136473.1(LITAF):c.172C>T (p.Pro58Ser)
NM_001136473.1(LITAF):c.17C>T (p.Pro6Leu)
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136473.1(LITAF):c.209A>G (p.Asn70Ser) rs746577483
NM_001136473.1(LITAF):c.220+4C>T
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala) rs756539992
NM_001136473.1(LITAF):c.226G>A (p.Val76Met) rs371334679
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala) rs1597329501
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys) rs539627278
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr) rs1267030887
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) rs375665454
NM_001136473.1(LITAF):c.26C>T (p.Ala9Val)
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu) rs11544251
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.310G>A (p.Val104Met) rs373445989
NM_001136473.1(LITAF):c.310G>T (p.Val104Leu)
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val) rs1567235442
NM_001136473.1(LITAF):c.368G>A (p.Cys123Tyr)
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro) rs1597329148
NM_001136473.1(LITAF):c.374T>C (p.Leu125Pro)
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.55G>A (p.Ala19Thr)
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479
NM_006158.4(NEFL):c.*1342A>G rs886062830
NM_006158.4(NEFL):c.*1349T>G rs886062828
NM_006158.4(NEFL):c.*1482C>T rs886062827
NM_006158.4(NEFL):c.*171C>G rs886062834
NM_006158.4(NEFL):c.*1744T>C rs886062825
NM_006158.4(NEFL):c.*51A>G rs538082598
NM_006158.4(NEFL):c.*577T>C rs886062832
NM_006158.4(NEFL):c.*856T>C rs886062831
NM_006158.4(NEFL):c.-68T>A rs886062836
NM_006158.4(NEFL):c.141G>A (p.Val47=) rs886062835
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.45G>A (p.Lys15=) rs62636518
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006158.5(NEFL):c.*1101G>A
NM_006158.5(NEFL):c.*1153T>G
NM_006158.5(NEFL):c.*1383C>T
NM_006158.5(NEFL):c.*1464A>G
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
NM_006158.5(NEFL):c.717G>A (p.Gln239=)

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