ClinVar Miner

List of variants in gene GDAP1 reported as uncertain significance for Charcot-Marie-Tooth disease type 4A

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Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile) rs144199299 0.00046
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val) rs144037310 0.00016
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val) rs112786851 0.00006
NM_018972.4(GDAP1):c.694+5G>A rs752550394 0.00006
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642 0.00004
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002 0.00003
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) rs751297226 0.00002
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) rs771810975 0.00002
NM_018972.4(GDAP1):c.389C>A (p.Ser130Tyr) rs147295250 0.00002
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys) rs762473236 0.00002
NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro) rs745398081 0.00002
NM_018972.4(GDAP1):c.151T>C (p.Cys51Arg) rs960211384 0.00001
NM_018972.4(GDAP1):c.153C>T (p.Cys51=) rs1413222465 0.00001
NM_018972.4(GDAP1):c.161A>G (p.His54Arg) rs1441803924 0.00001
NM_018972.4(GDAP1):c.209G>T (p.Arg70Leu) rs775739690 0.00001
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg) rs1290008555 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) rs1279013936 0.00001
NM_018972.4(GDAP1):c.400G>T (p.Asp134Tyr) rs1809295867 0.00001
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) rs1375032292 0.00001
NM_018972.4(GDAP1):c.484+4T>C rs1318164702 0.00001
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro) rs1362886530 0.00001
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys) rs1475695228 0.00001
NM_018972.4(GDAP1):c.577A>C (p.Lys193Gln) rs1085307665 0.00001
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) rs878855054 0.00001
NM_018972.4(GDAP1):c.619A>G (p.Lys207Glu) rs1443360585 0.00001
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868 0.00001
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser) rs1026680509 0.00001
NM_018972.4(GDAP1):c.695-9T>A rs906225606 0.00001
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) rs763963750 0.00001
NM_018972.4(GDAP1):c.745G>A (p.Val249Ile) rs753181104 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln) rs1425323007 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_018972.4(GDAP1):c.874G>A (p.Val292Ile) rs767553697 0.00001
NM_018972.4(GDAP1):c.892A>C (p.Asn298His) rs1470584902 0.00001
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) rs368055667 0.00001
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala) rs1356175561 0.00001
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe) rs879254196 0.00001
NC_000008.10:g.(?_75262697)_(75263721_?)dup
NC_000008.11:g.(?_74349383)_(74368110_?)dup
NM_018972.4(GDAP1):c.1014G>A (p.Met338Ile)
NM_018972.4(GDAP1):c.1014G>C (p.Met338Ile) rs759748392
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn) rs1380854548
NM_018972.4(GDAP1):c.1042A>G (p.Ile348Val) rs775559344
NM_018972.4(GDAP1):c.1048G>A (p.Ala350Thr)
NM_018972.4(GDAP1):c.1063C>A (p.Pro355Thr) rs1219244427
NM_018972.4(GDAP1):c.1063C>T (p.Pro355Ser) rs1219244427
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) rs765609133
NM_018972.4(GDAP1):c.1067A>G (p.Asn356Ser)
NM_018972.4(GDAP1):c.118-3C>G rs750762719
NM_018972.4(GDAP1):c.118-8T>G
NM_018972.4(GDAP1):c.166G>A (p.Val56Ile) rs1808860135
NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg) rs774799079
NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs) rs1586795201
NM_018972.4(GDAP1):c.178T>G (p.Leu60Val)
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn) rs1808861763
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys) rs1808862287
NM_018972.4(GDAP1):c.200G>T (p.Trp67Leu)
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile) rs770714080
NM_018972.4(GDAP1):c.215A>G (p.Asn72Ser)
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu) rs1586795332
NM_018972.4(GDAP1):c.238C>T (p.Leu80Phe)
NM_018972.4(GDAP1):c.244C>A (p.His82Asn)
NM_018972.4(GDAP1):c.245A>G (p.His82Arg)
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg) rs1586795373
NM_018972.4(GDAP1):c.250G>C (p.Glu84Gln)
NM_018972.4(GDAP1):c.257T>A (p.Ile86Lys)
NM_018972.4(GDAP1):c.259A>G (p.Ile87Val) rs2131496333
NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter) rs1586795452
NM_018972.4(GDAP1):c.302T>A (p.Phe101Tyr) rs1808871960
NM_018972.4(GDAP1):c.310+4A>G rs1808873168
NM_018972.4(GDAP1):c.310+5T>C
NM_018972.4(GDAP1):c.311-6T>G
NM_018972.4(GDAP1):c.346A>T (p.Met116Leu)
NM_018972.4(GDAP1):c.347T>C (p.Met116Thr) rs281865060
NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys) rs1809288442
NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln) rs1174933176
NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del)
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys) rs1440200660
NM_018972.4(GDAP1):c.373C>G (p.Arg125Gly)
NM_018972.4(GDAP1):c.404C>G (p.Ala135Gly)
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.445G>C (p.Asp149His) rs1443963090
NM_018972.4(GDAP1):c.446A>C (p.Asp149Ala)
NM_018972.4(GDAP1):c.446A>G (p.Asp149Gly) rs1586803296
NM_018972.4(GDAP1):c.449C>T (p.Ser150Phe)
NM_018972.4(GDAP1):c.456C>G (p.Ile152Met)
NM_018972.4(GDAP1):c.458C>A (p.Pro153Gln)
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.475A>G (p.Arg159Gly) rs1809303639
NM_018972.4(GDAP1):c.477G>T (p.Arg159Ser)
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.484+3A>G
NM_018972.4(GDAP1):c.484+6T>C rs2131513088
NM_018972.4(GDAP1):c.485-3C>T rs761332159
NM_018972.4(GDAP1):c.491T>C (p.Ile164Thr)
NM_018972.4(GDAP1):c.506C>T (p.Ser169Phe)
NM_018972.4(GDAP1):c.506_507delinsTG (p.Ser169Leu) rs1809384050
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr) rs1809389310
NM_018972.4(GDAP1):c.568A>G (p.Lys190Glu) rs1809389662
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.579+5G>A rs1809391441
NM_018972.4(GDAP1):c.586C>G (p.Leu196Val) rs1057524488
NM_018972.4(GDAP1):c.608A>G (p.Lys203Arg)
NM_018972.4(GDAP1):c.618G>T (p.Lys206Asn) rs780629692
NM_018972.4(GDAP1):c.643G>T (p.Val215Phe)
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu) rs121908113
NM_018972.4(GDAP1):c.653A>C (p.Gln218Pro) rs556827873
NM_018972.4(GDAP1):c.656T>A (p.Val219Asp) rs1586806206
NM_018972.4(GDAP1):c.656T>C (p.Val219Ala) rs1586806206
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro) rs1586806229
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del) rs1586806238
NM_018972.4(GDAP1):c.689C>G (p.Thr230Ser)
NM_018972.4(GDAP1):c.689C>T (p.Thr230Ile)
NM_018972.4(GDAP1):c.694+3A>G
NM_018972.4(GDAP1):c.695-1G>A rs1809496317
NM_018972.4(GDAP1):c.697G>A (p.Glu233Lys)
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
NM_018972.4(GDAP1):c.716T>A (p.Leu239His)
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser) rs121908115
NM_018972.4(GDAP1):c.765G>C (p.Leu255Phe) rs1809501318
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.793A>G (p.Arg265Gly)
NM_018972.4(GDAP1):c.805G>A (p.Gly269Arg) rs2131521657
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala) rs1563445213
NM_018972.4(GDAP1):c.857G>C (p.Arg286Thr)
NM_018972.4(GDAP1):c.866T>A (p.Phe289Tyr)
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg) rs1809508613
NM_018972.4(GDAP1):c.874G>C (p.Val292Leu) rs767553697
NM_018972.4(GDAP1):c.880G>A (p.Gly294Arg) rs976792279
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys) rs1586807449
NM_018972.4(GDAP1):c.897A>G (p.Ile299Met)
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala) rs1586807478
NM_018972.4(GDAP1):c.907G>A (p.Ala303Thr) rs368055667
NM_018972.4(GDAP1):c.908C>T (p.Ala303Val) rs1440025936
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu) rs1809513515
NM_018972.4(GDAP1):c.934G>A (p.Ala312Thr)
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu) rs1809514361
NM_018972.4(GDAP1):c.945G>C (p.Arg315Ser)
NM_018972.4(GDAP1):c.947C>A (p.Ala316Asp)
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe) rs1176626666
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817

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