ClinVar Miner

List of variants in gene DYNC1H1 reported as uncertain significance for Charcot-Marie-Tooth disease, axonal, type 2O

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Total variants: 214
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HGVS dbSNP
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly)
NM_001376.5(DYNC1H1):c.10291A>G (p.Asn3431Asp) rs1315999225
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn)
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys)
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met)
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.5(DYNC1H1):c.10627-6T>C rs1555411461
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
NM_001376.5(DYNC1H1):c.10661C>T (p.Ser3554Phe) rs1567019533
NM_001376.5(DYNC1H1):c.10682G>A (p.Arg3561His) rs1064796932
NM_001376.5(DYNC1H1):c.10703C>T (p.Pro3568Leu)
NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn) rs768668529
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp) rs1332342693
NM_001376.5(DYNC1H1):c.10751A>G (p.Asn3584Ser)
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
NM_001376.5(DYNC1H1):c.11055+6G>A
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val) rs771355909
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=) rs369351359
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly) rs1239478672
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg)
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=) rs750305144
NM_001376.5(DYNC1H1):c.11941+2T>A
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys)
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg)
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe)
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His) rs1271427633
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser)
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=)
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=) rs757449756
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile) rs754437318
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile)
NM_001376.5(DYNC1H1):c.12514-3C>T rs761866611
NM_001376.5(DYNC1H1):c.12584G>A (p.Arg4195Gln) rs140013253
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg)
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys)
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu) rs1555412242
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met) rs774296708
NM_001376.5(DYNC1H1):c.13006+4G>A
NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu) rs747829220
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.5(DYNC1H1):c.13150G>A (p.Ala4384Thr) rs768797999
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292
NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr) rs1567025279
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala) rs1555412552
NM_001376.5(DYNC1H1):c.13257G>C (p.Met4419Ile) rs1555412618
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys)
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg) rs763724110
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met) rs146087540
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys)
NM_001376.5(DYNC1H1):c.13373-3C>G rs1567025991
NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=) rs17541692
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678
NM_001376.5(DYNC1H1):c.13441G>A (p.Asp4481Asn) rs1243385324
NM_001376.5(DYNC1H1):c.13516-10C>A
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
NM_001376.5(DYNC1H1):c.13710_13712CAA[3] (p.Asn4573del) rs1013209915
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys) rs886050377
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys)
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)
NM_001376.5(DYNC1H1):c.13798A>C (p.Lys4600Gln) rs1060502205
NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val) rs1566991081
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val) rs879254286
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=) rs781130520
NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn) rs750353606
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys) rs200149883
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn) rs777919963
NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp) rs776102509
NM_001376.5(DYNC1H1):c.1454G>A (p.Arg485Lys) rs879254275
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met) rs773725715
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=)
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys) rs1298953581
NM_001376.5(DYNC1H1):c.1507C>G (p.Gln503Glu) rs1060502209
NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=) rs1057522046
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys)
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met) rs760971556
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His) rs1244748017
NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val)
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln)
NM_001376.5(DYNC1H1):c.2029G>A (p.Val677Met) rs563050462
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His) rs759802064
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter)
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro)
NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile) rs781320162
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val) rs1358924141
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile) rs766014166
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs)
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile)
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile) rs1332902634
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819
NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser) rs1060502206
NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu) rs775528195
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu) rs867890249
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu)
NM_001376.5(DYNC1H1):c.3230A>G (p.Asn1077Ser)
NM_001376.5(DYNC1H1):c.345-3T>G rs1060502203
NM_001376.5(DYNC1H1):c.3571C>T (p.Arg1191Cys) rs774198261
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=) rs778273904
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg) rs867503066
NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met) rs749548033
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn) rs760571415
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg)
NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu) rs1131691955
NM_001376.5(DYNC1H1):c.4173A>C (p.Lys1391Asn) rs1555409283
NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr) rs1567006255
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)
NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile) rs367614843
NM_001376.5(DYNC1H1):c.4370T>C (p.Met1457Thr) rs1567006359
NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile) rs761695197
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu) rs762246186
NM_001376.5(DYNC1H1):c.4709+6G>T rs1555409403
NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp) rs1060502204
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys)
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser)
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys) rs1321265961
NM_001376.5(DYNC1H1):c.5050-3C>T
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val) rs1555409556
NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys) rs1555409562
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met) rs1555409563
NM_001376.5(DYNC1H1):c.5166G>A (p.Thr1722=)
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val) rs138287354
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val)
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr) rs1555409568
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met) rs199740595
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe)
NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met) rs780345145
NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr) rs144147463
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853
NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr) rs200722698
NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln)
NM_001376.5(DYNC1H1):c.5433_5433+27dup
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs) rs1555409622
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His)
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.5(DYNC1H1):c.598A>G (p.Ile200Val) rs1566996430
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=)
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val) rs1555407906
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln) rs1060502207
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg)
NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile) rs765613848
NM_001376.5(DYNC1H1):c.646G>A (p.Val216Ile)
NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr) rs1060502208
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn) rs376274132
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val) rs1567010983
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser) rs142335110
NM_001376.5(DYNC1H1):c.7014+3A>G rs1426193095
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu)
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377
NM_001376.5(DYNC1H1):c.7148G>A (p.Arg2383His) rs1028991666
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp)
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro)
NM_001376.5(DYNC1H1):c.7242+5G>A
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile)
NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe) rs1161281176
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys)
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His) rs1441059709
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala) rs1018948570
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys)
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln)
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly) rs879253979
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)
NM_001376.5(DYNC1H1):c.7614+6C>T rs1567012532
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His)
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln)
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg) rs1555410313
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met) rs376679623
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=) rs138710201
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)
NM_001376.5(DYNC1H1):c.8343+5G>A
NM_001376.5(DYNC1H1):c.8344-4A>G rs200913985
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His)
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val)
NM_001376.5(DYNC1H1):c.8555C>T (p.Thr2852Met) rs575806819
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala) rs1555410902
NM_001376.5(DYNC1H1):c.8886+4C>T rs1349379812
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser)
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr) rs1555410940
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381
NM_001376.5(DYNC1H1):c.9216G>A (p.Ser3072=)
NM_001376.5(DYNC1H1):c.9263+5G>A rs200144865
NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg)
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu) rs905098104
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile)
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg)
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr) rs1311056505
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys)
NM_001376.5(DYNC1H1):c.9577G>A (p.Glu3193Lys) rs1567017804
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) rs1567017825
NM_001376.5(DYNC1H1):c.9642+4C>A
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu) rs1567017900
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln) rs1567018077
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr)

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