ClinVar Miner

List of variants in gene GDAP1 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (135):
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Gene type:
ClinVar version:
Total variants: 183
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HGVS dbSNP
NC_000008.11:g.(?_74349383)_(74368110_?)dup
NM_001362931.2(GDAP1):c.694+3856A>G
NM_001362931.2(GDAP1):c.694+3989C>T
NM_001362931.2(GDAP1):c.694+4016T>C
NM_001362931.2(GDAP1):c.694+4037T>C rs886063119
NM_018972.2(GDAP1):c.347T>C rs281865060
NM_018972.4(GDAP1):c.*1030T>C rs576789317
NM_018972.4(GDAP1):c.*1043G>C
NM_018972.4(GDAP1):c.*1080G>A
NM_018972.4(GDAP1):c.*1124G>T rs886063111
NM_018972.4(GDAP1):c.*1141C>T
NM_018972.4(GDAP1):c.*1165C>G
NM_018972.4(GDAP1):c.*1183G>A
NM_018972.4(GDAP1):c.*1289T>C
NM_018972.4(GDAP1):c.*1301A>G
NM_018972.4(GDAP1):c.*1372A>G
NM_018972.4(GDAP1):c.*1377C>T rs886063112
NM_018972.4(GDAP1):c.*1415C>T
NM_018972.4(GDAP1):c.*1416G>A rs575631045
NM_018972.4(GDAP1):c.*1430T>A rs538689570
NM_018972.4(GDAP1):c.*1437A>C rs557040712
NM_018972.4(GDAP1):c.*1527G>A rs886063113
NM_018972.4(GDAP1):c.*1570G>C rs886063114
NM_018972.4(GDAP1):c.*1639A>G rs145245478
NM_018972.4(GDAP1):c.*1779G>T rs886063115
NM_018972.4(GDAP1):c.*18C>T
NM_018972.4(GDAP1):c.*1905A>G
NM_018972.4(GDAP1):c.*1923C>T rs886063116
NM_018972.4(GDAP1):c.*195T>C
NM_018972.4(GDAP1):c.*1968C>T
NM_018972.4(GDAP1):c.*1976C>T rs527937918
NM_018972.4(GDAP1):c.*2125A>C
NM_018972.4(GDAP1):c.*2170A>G rs886063117
NM_018972.4(GDAP1):c.*2210C>T rs571939530
NM_018972.4(GDAP1):c.*2298A>C
NM_018972.4(GDAP1):c.*2298A>G rs4551344
NM_018972.4(GDAP1):c.*331C>T
NM_018972.4(GDAP1):c.*444A>G rs113377784
NM_018972.4(GDAP1):c.*451C>T
NM_018972.4(GDAP1):c.*618C>T rs886063106
NM_018972.4(GDAP1):c.*644G>T
NM_018972.4(GDAP1):c.*663T>C rs886063107
NM_018972.4(GDAP1):c.*697A>G
NM_018972.4(GDAP1):c.*751A>G rs544136357
NM_018972.4(GDAP1):c.*858G>T rs761964880
NM_018972.4(GDAP1):c.*860T>C
NM_018972.4(GDAP1):c.*864G>C rs886063108
NM_018972.4(GDAP1):c.*873T>C rs573385308
NM_018972.4(GDAP1):c.*898A>G rs886063109
NM_018972.4(GDAP1):c.*926C>A
NM_018972.4(GDAP1):c.*931A>G rs532787830
NM_018972.4(GDAP1):c.*961G>C rs886063110
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185
NM_018972.4(GDAP1):c.100dup (p.Ser34fs) rs1586794271
NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys) rs1586794273
NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg) rs1586807668
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn) rs1380854548
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) rs765609133
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) rs1448664085
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) rs756121249
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn) rs1586794314
NM_018972.4(GDAP1):c.118-3C>G rs750762719
NM_018972.4(GDAP1):c.161A>G (p.His54Arg) rs1441803924
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg)
NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs) rs1586795201
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) rs1586795216
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu) rs1586795332
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg) rs1586795373
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val) rs144037310
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) rs751297226
NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg)
NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter) rs1586795452
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu)
NM_018972.4(GDAP1):c.310+3A>G rs1586795495
NM_018972.4(GDAP1):c.310+4A>G
NM_018972.4(GDAP1):c.311-1G>A rs1370011538
NM_018972.4(GDAP1):c.332C>A (p.Pro111His) rs1586802999
NM_018972.4(GDAP1):c.337_340AAAG[1] (p.Glu114fs) rs1586803018
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg) rs1290008555
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys)
NM_018972.4(GDAP1):c.358C>G (p.Arg120Gly) rs104894078
NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln) rs1174933176
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu) rs1174933176
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys) rs1440200660
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) rs771810975
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) rs1279013936
NM_018972.4(GDAP1):c.385G>C (p.Asp129His) rs1279013936
NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys) rs147295250
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe) rs1586803187
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) rs1375032292
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) rs570990910
NM_018972.4(GDAP1):c.433_437del (p.Glu145fs) rs1586803273
NM_018972.4(GDAP1):c.439del (p.Thr147fs) rs1586803279
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) rs1443963090
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782
NM_018972.4(GDAP1):c.471T>G (p.Thr157=)
NM_018972.4(GDAP1):c.475A>G (p.Arg159Gly)
NM_018972.4(GDAP1):c.485-2A>G rs1586804734
NM_018972.4(GDAP1):c.485-3C>T rs761332159
NM_018972.4(GDAP1):c.485-6T>C rs763802909
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr)
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro) rs1362886530
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys) rs1475695228
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) rs1586804849
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr)
NM_018972.4(GDAP1):c.558del (p.Ile186fs) rs770658701
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile) rs144199299
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.58G>A (p.Ala20Thr)
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) rs376868259
NM_018972.4(GDAP1):c.602A>G (p.Asn201Ser) rs1586806110
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) rs878855054
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
NM_018972.4(GDAP1):c.656T>A (p.Val219Asp) rs1586806206
NM_018972.4(GDAP1):c.656T>G (p.Val219Gly) rs1586806206
NM_018972.4(GDAP1):c.664G>A (p.Glu222Lys) rs1586806217
NM_018972.4(GDAP1):c.668T>A (p.Leu223Ter) rs769449440
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro) rs1586806229
NM_018972.4(GDAP1):c.674_676GAA[1] (p.Arg226del) rs1586806238
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) rs1586806242
NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser) rs267606842
NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp) rs1378955867
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser) rs1026680509
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys)
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.694+5G>A rs752550394
NM_018972.4(GDAP1):c.695-1G>A
NM_018972.4(GDAP1):c.695-9T>A rs906225606
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) rs763963750
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002
NM_018972.4(GDAP1):c.740C>T (p.Ala247Val) rs1586807209
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019
NM_018972.4(GDAP1):c.765G>C (p.Leu255Phe)
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln) rs1425323007
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu) rs1563445155
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs) rs765346218
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala) rs1563445213
NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys) rs1472098057
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser) rs1417699318
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) rs1586807387
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837
NM_018972.4(GDAP1):c.864dup (p.Phe289fs) rs1586807423
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser) rs1563437000
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys) rs1586807449
NM_018972.4(GDAP1):c.892A>C (p.Asn298His)
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala) rs1586807478
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) rs368055667
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala) rs1356175561
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu)
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu)
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe) rs1176626666
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe) rs879254196

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