ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease recessive intermediate A by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
NM_018972.4(GDAP1):c.117+12C>G rs202059380 0.00284
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782 0.00057
NM_018972.4(GDAP1):c.474A>G (p.Thr158=) rs202215041 0.00052
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.399G>A (p.Met133Ile) rs139808557 0.00017
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.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) rs374624466 0.00014
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_018972.4(GDAP1):c.594T>C (p.Asp198=) rs565901784 0.00011
NM_018972.4(GDAP1):c.744C>T (p.Asp248=) rs370099528 0.00011
NM_018972.4(GDAP1):c.72T>C (p.Val24=) rs142674939 0.00010
NM_018972.4(GDAP1):c.58G>A (p.Ala20Thr) rs375536495 0.00009
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_018972.4(GDAP1):c.894T>C (p.Asn298=) rs756599272 0.00009
NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg) rs202010117 0.00007
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.720C>T (p.Cys240=) rs367790253 0.00006
NM_018972.4(GDAP1):c.810C>T (p.Asn270=) rs144111413 0.00006
NM_018972.4(GDAP1):c.885T>C (p.His295=) rs752758036 0.00006
NM_018972.4(GDAP1):c.90T>C (p.His30=) rs555369956 0.00006
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_018972.4(GDAP1):c.1045T>C (p.Leu349=) rs368943246 0.00004
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642 0.00004
NM_018972.4(GDAP1):c.39C>T (p.Pro13=) rs143063749 0.00004
NM_018972.4(GDAP1):c.579+9A>G rs768849850 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226 0.00004
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp) rs538389475 0.00004
NM_018972.4(GDAP1):c.21G>A (p.Glu7=) rs199612265 0.00003
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386 0.00003
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002 0.00003
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter) rs150989205 0.00003
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837 0.00003
NM_018972.4(GDAP1):c.117+10G>A rs371957814 0.00002
NM_018972.4(GDAP1):c.165T>C (p.Asp55=) rs138538469 0.00002
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.513G>A (p.Leu171=) rs778079435 0.00002
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 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.915G>T (p.Leu305=) rs745516657 0.00002
NM_018972.4(GDAP1):c.102C>G (p.Ser34=) rs7828201 0.00001
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) rs1448664085 0.00001
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) rs756121249 0.00001
NM_018972.4(GDAP1):c.120G>A (p.Val40=) rs1031865271 0.00001
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.191A>G (p.Asn64Ser) rs769632836 0.00001
NM_018972.4(GDAP1):c.209G>T (p.Arg70Leu) rs775739690 0.00001
NM_018972.4(GDAP1):c.216C>T (p.Asn72=) rs760859999 0.00001
NM_018972.4(GDAP1):c.225A>G (p.Gly75=) rs761890773 0.00001
NM_018972.4(GDAP1):c.311-15G>A rs373622064 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter) rs751986220 0.00001
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg) rs1290008555 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 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.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_018972.4(GDAP1):c.471T>G (p.Thr157=) rs886293648 0.00001
NM_018972.4(GDAP1):c.484+4T>C rs1318164702 0.00001
NM_018972.4(GDAP1):c.485-6T>C rs763802909 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.544C>T (p.Gln182Ter) rs779894269 0.00001
NM_018972.4(GDAP1):c.577A>C (p.Lys193Gln) rs1085307665 0.00001
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) rs376868259 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.70G>T (p.Val24Phe) rs1406620213 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.753C>T (p.Leu251=) rs1285748573 0.00001
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 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.846T>A (p.Arg282=) rs751766713 0.00001
NM_018972.4(GDAP1):c.864A>G (p.Thr288=) rs1452402318 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.(?_74888497)_(75274233_?)dup
NC_000008.10:g.(?_74888517)_(75276602_?)dup
NC_000008.10:g.(?_75262697)_(75276602_?)del
NC_000008.10:g.(?_75272366)_(75272551_?)del
NC_000008.11:g.(?_73976132)_(74367120_?)dup
NC_000008.11:g.(?_74349383)_(74368110_?)dup
NC_000008.11:g.74350373_74350374del rs577136201
NM_018972.4(GDAP1):c.1014G>A (p.Met338Ile)
NM_018972.4(GDAP1):c.1014G>C (p.Met338Ile) rs759748392
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.102= (p.Ser34=)
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.105C>T (p.Phe35=)
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.108C>A (p.Ser36Arg)
NM_018972.4(GDAP1):c.111T>G (p.Ser37=)
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.116del (p.Lys39fs) rs778547659
NM_018972.4(GDAP1):c.117+19G>A
NM_018972.4(GDAP1):c.117+1G>A rs1808804404
NM_018972.4(GDAP1):c.117+3A>G
NM_018972.4(GDAP1):c.118-15T>C
NM_018972.4(GDAP1):c.118-16G>A rs757760120
NM_018972.4(GDAP1):c.118-3C>G rs750762719
NM_018972.4(GDAP1):c.118-7C>G
NM_018972.4(GDAP1):c.118-8T>G
NM_018972.4(GDAP1):c.118-9C>A
NM_018972.4(GDAP1):c.11G>A (p.Arg4Lys)
NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)
NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter) rs2131493453
NM_018972.4(GDAP1):c.166G>A (p.Val56Ile) rs1808860135
NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg) rs774799079
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.196C>T (p.Pro66Ser) rs773136934
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)
NM_018972.4(GDAP1):c.1del (p.Met1fs)
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.22C>T (p.Gln8Ter) rs1586794015
NM_018972.4(GDAP1):c.235_239del (p.Val79fs) rs1243845978
NM_018972.4(GDAP1):c.238C>T (p.Leu80Phe)
NM_018972.4(GDAP1):c.23A>G (p.Gln8Arg) rs879253884
NM_018972.4(GDAP1):c.243C>T (p.Ile81=) rs2131496261
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.250G>T (p.Glu84Ter) rs1808867656
NM_018972.4(GDAP1):c.250del (p.Glu84fs) rs1241632021
NM_018972.4(GDAP1):c.257T>A (p.Ile86Lys)
NM_018972.4(GDAP1):c.259A>G (p.Ile87Val) rs2131496333
NM_018972.4(GDAP1):c.25A>G (p.Arg9Gly)
NM_018972.4(GDAP1):c.27_28del (p.Gly10fs) rs2131493519
NM_018972.4(GDAP1):c.302T>A (p.Phe101Tyr) rs1808871960
NM_018972.4(GDAP1):c.310+1G>A rs1808872865
NM_018972.4(GDAP1):c.310+20C>G
NM_018972.4(GDAP1):c.310+4A>G rs1808873168
NM_018972.4(GDAP1):c.310+5T>C
NM_018972.4(GDAP1):c.310+8del rs1279865642
NM_018972.4(GDAP1):c.311-11G>A
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.311-6T>C
NM_018972.4(GDAP1):c.311-6T>G
NM_018972.4(GDAP1):c.346A>T (p.Met116Leu)
NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys) rs1809288442
NM_018972.4(GDAP1):c.357A>G (p.Pro119=) rs2131512519
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu) rs1174933176
NM_018972.4(GDAP1):c.360G>A (p.Arg120=)
NM_018972.4(GDAP1):c.361del (p.Val121fs) rs2131512540
NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del)
NM_018972.4(GDAP1):c.367del (p.His123fs)
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.373C>G (p.Arg125Gly)
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.387C>T (p.Asp129=)
NM_018972.4(GDAP1):c.391T>C (p.Leu131=)
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe) rs1586803187
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
NM_018972.4(GDAP1):c.39C>A (p.Pro13=)
NM_018972.4(GDAP1):c.404C>G (p.Ala135Gly)
NM_018972.4(GDAP1):c.405C>T (p.Ala135=) rs763427538
NM_018972.4(GDAP1):c.408T>C (p.Tyr136=) rs766998162
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) rs570990910
NM_018972.4(GDAP1):c.445G>C (p.Asp149His) rs1443963090
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) 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.450C>T (p.Ser150=) rs752334269
NM_018972.4(GDAP1):c.456C>G (p.Ile152Met)
NM_018972.4(GDAP1):c.456C>T (p.Ile152=)
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser) rs2131512957
NM_018972.4(GDAP1):c.458C>A (p.Pro153Gln)
NM_018972.4(GDAP1):c.45G>A (p.Arg15=) rs749658930
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser) rs1809302381
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) rs397515441
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.480T>A (p.Ile160=) rs1586803400
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.484+19G>A
NM_018972.4(GDAP1):c.484+20A>G
NM_018972.4(GDAP1):c.484+3A>G
NM_018972.4(GDAP1):c.484+6T>C rs2131513088
NM_018972.4(GDAP1):c.484+6_484+19dup
NM_018972.4(GDAP1):c.485-17A>C
NM_018972.4(GDAP1):c.485-2del
NM_018972.4(GDAP1):c.485-3C>T rs761332159
NM_018972.4(GDAP1):c.491T>C (p.Ile164Thr)
NM_018972.4(GDAP1):c.492T>C (p.Ile164=) rs1809382139
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs) rs1221804567
NM_018972.4(GDAP1):c.506C>T (p.Ser169Phe)
NM_018972.4(GDAP1):c.506_507delinsTG (p.Ser169Leu) rs1809384050
NM_018972.4(GDAP1):c.531A>G (p.Glu177=) rs1809386519
NM_018972.4(GDAP1):c.536del (p.Pro179fs) rs1169652308
NM_018972.4(GDAP1):c.543A>G (p.Leu181=) rs779132911
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr) rs1809389310
NM_018972.4(GDAP1):c.55A>G (p.Lys19Glu)
NM_018972.4(GDAP1):c.568A>G (p.Lys190Glu) rs1809389662
NM_018972.4(GDAP1):c.571C>A (p.Arg191=) rs1554547986
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter) rs1085307665
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.580-15T>C
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>A (p.Lys206=)
NM_018972.4(GDAP1):c.618G>T (p.Lys206Asn) rs780629692
NM_018972.4(GDAP1):c.618dup (p.Lys207fs) rs1809447471
NM_018972.4(GDAP1):c.61G>A (p.Asp21Asn) rs1367421978
NM_018972.4(GDAP1):c.633G>A (p.Glu211=) rs2131519229
NM_018972.4(GDAP1):c.643G>T (p.Val215Phe)
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
NM_018972.4(GDAP1):c.656T>C (p.Val219Ala) rs1586806206
NM_018972.4(GDAP1):c.65C>G (p.Ala22Gly)
NM_018972.4(GDAP1):c.65C>T (p.Ala22Val)
NM_018972.4(GDAP1):c.666A>G (p.Glu222=)
NM_018972.4(GDAP1):c.66G>A (p.Ala22=)
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro) rs1586806229
NM_018972.4(GDAP1):c.672A>G (p.Gln224=)
NM_018972.4(GDAP1):c.689C>G (p.Thr230Ser)
NM_018972.4(GDAP1):c.689C>T (p.Thr230Ile)
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.694+3A>G
NM_018972.4(GDAP1):c.694+8C>A
NM_018972.4(GDAP1):c.695-19T>C
NM_018972.4(GDAP1):c.695-1G>A rs1809496317
NM_018972.4(GDAP1):c.695-20A>G
NM_018972.4(GDAP1):c.697G>A (p.Glu233Lys)
NM_018972.4(GDAP1):c.6T>C (p.Ala2=)
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
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.72T>G (p.Val24=) rs142674939
NM_018972.4(GDAP1):c.756T>C (p.Ala252=)
NM_018972.4(GDAP1):c.75G>A (p.Lys25=) rs761730309
NM_018972.4(GDAP1):c.763T>C (p.Leu255=) rs2131521525
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.77T>C (p.Leu26Pro)
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.818G>A (p.Arg273Gln) rs879254192
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala) rs1563445213
NM_018972.4(GDAP1):c.834C>G (p.Thr278=) rs2131521778
NM_018972.4(GDAP1):c.837T>C (p.Tyr279=) rs1309093739
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.857G>C (p.Arg286Thr)
NM_018972.4(GDAP1):c.85T>G (p.Tyr29Asp)
NM_018972.4(GDAP1):c.866T>A (p.Phe289Tyr)
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser) rs1563437000
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.897A>G (p.Ile299Met)
NM_018972.4(GDAP1):c.89A>T (p.His30Leu) rs896431562
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.912G>T (p.Val304=)
NM_018972.4(GDAP1):c.913C>T (p.Leu305=)
NM_018972.4(GDAP1):c.921A>C (p.Thr307=)
NM_018972.4(GDAP1):c.921A>G (p.Thr307=)
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu) rs1809513515
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.930G>A (p.Arg310=)
NM_018972.4(GDAP1):c.934G>A (p.Ala312Thr)
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu) rs1809514361
NM_018972.4(GDAP1):c.942A>G (p.Lys314=) rs771751303
NM_018972.4(GDAP1):c.945G>C (p.Arg315Ser)
NM_018972.4(GDAP1):c.947C>A (p.Ala316Asp)
NM_018972.4(GDAP1):c.951A>C (p.Pro317=)
NM_018972.4(GDAP1):c.966G>A (p.Thr322=)
NM_018972.4(GDAP1):c.966G>C (p.Thr322=)
NM_018972.4(GDAP1):c.96G>T (p.Thr32=)
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe) rs1176626666
NM_018972.4(GDAP1):c.975G>A (p.Val325=)
NM_018972.4(GDAP1):c.975G>T (p.Val325=)
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817
NM_018972.4(GDAP1):c.97C>T (p.His33Tyr)
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432

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