ClinVar Miner

List of variants in gene DYNC1H1 studied for Charcot-Marie-Tooth disease

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Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.12902+46G>A rs2273440 0.35190
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644 0.20803
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510 0.20452
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529 0.15530
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_001376.5(DYNC1H1):c.9469-20A>T rs2720210 0.03010
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_001376.5(DYNC1H1):c.3960+16G>A rs11850726 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_001376.5(DYNC1H1):c.5433+17dup rs140185574 0.00680
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_001376.5(DYNC1H1):c.12684+14A>G rs200392758 0.00502
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497 0.00332
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_001376.5(DYNC1H1):c.10414-13G>A rs17541421 0.00190
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839 0.00183
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325 0.00112
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967 0.00110
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009 0.00103
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735 0.00049
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522 0.00046
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103 0.00046
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756 0.00045
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_001376.5(DYNC1H1):c.12513+17C>T rs368189529 0.00027
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810 0.00021
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) rs112261870 0.00020
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) rs75113705 0.00019
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548 0.00017
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980 0.00014
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479 0.00014
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500 0.00013
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519 0.00013
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359 0.00011
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566 0.00010
NM_001376.5(DYNC1H1):c.13515+9G>A rs374678076 0.00009
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977 0.00009
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) rs201720217 0.00009
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896 0.00009
NM_001376.5(DYNC1H1):c.12102+20C>T rs200362531 0.00008
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938 0.00008
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812 0.00008
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872 0.00007
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=) rs373317658 0.00006
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) rs759525537 0.00006
NM_001376.5(DYNC1H1):c.519-17A>G rs370195127 0.00005
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=) rs142726284 0.00005
NM_001376.5(DYNC1H1):c.10626+7A>G rs1427174553 0.00004
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760 0.00004
NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=) rs758877590 0.00004
NM_001376.5(DYNC1H1):c.11596-20G>A rs372623721 0.00004
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=) rs1022735666 0.00004
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=) rs749887344 0.00004
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475 0.00004
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) rs375687099 0.00004
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156 0.00004
NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=) rs572233805 0.00004
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=) rs184264124 0.00003
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=) rs143936619 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=) rs772665813 0.00002
NM_001376.5(DYNC1H1):c.11595+20C>T rs753442936 0.00002
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) rs772761222 0.00002
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=) rs755482182 0.00002
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=) rs780744467 0.00002
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) rs1595626695 0.00001
NM_001376.5(DYNC1H1):c.10754+10C>T rs186169554 0.00001
NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=) rs572991122 0.00001
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met) rs770188348 0.00001
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val) rs992393537 0.00001
NM_001376.5(DYNC1H1):c.12276-17T>C rs758737122 0.00001
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) rs1260546515 0.00001
NM_001376.5(DYNC1H1):c.13372+14C>T rs537023632 0.00001
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys) rs753454594 0.00001
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp) rs200224597 0.00001
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile) rs1383117534 0.00001
NM_001376.5(DYNC1H1):c.4074+11A>T rs368040742 0.00001
NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile) rs760230019 0.00001
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200 0.00001
NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=) rs764884119 0.00001
NM_001376.5(DYNC1H1):c.6619-19G>A rs747037096 0.00001
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405 0.00001
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=) rs758178917 0.00001
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=) rs1169712846 0.00001
NM_001376.5(DYNC1H1):c.10626+12G>A rs751897147
NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=) rs2048607317
NM_001376.5(DYNC1H1):c.11402A>C (p.Tyr3801Ser) rs1595629587
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.11416A>C (p.Thr3806Pro) rs1595629612
NM_001376.5(DYNC1H1):c.11618G>C (p.Arg3873Pro) rs745812006
NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=) rs530450786
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu) rs2048684224
NM_001376.5(DYNC1H1):c.12763C>G (p.Arg4255Gly) rs770105370
NM_001376.5(DYNC1H1):c.12767T>G (p.Val4256Gly) rs1298640455
NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=) rs1566997875
NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg) rs1206639344
NM_001376.5(DYNC1H1):c.13218+18G>A rs745843852
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=) rs17541692
NM_001376.5(DYNC1H1):c.13516-18G>C rs2048778047
NM_001376.5(DYNC1H1):c.13565C>T (p.Thr4522Ile) rs1595637702
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys) rs2048779548
NM_001376.5(DYNC1H1):c.13869C>T (p.Asp4623=) rs2048794268
NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=) rs2048795231
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=) rs1595601645
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=) rs2048042753
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val) rs1567005557
NM_001376.5(DYNC1H1):c.3845T>G (p.Ile1282Arg) rs1479995920
NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln) rs773425996
NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln) rs2048175428
NM_001376.5(DYNC1H1):c.519-3dup rs2047841392
NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His) rs1399321780
NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=) rs2048193766
NM_001376.5(DYNC1H1):c.6023T>G (p.Val2008Gly) rs1595613980
NM_001376.5(DYNC1H1):c.6222-20C>A rs200368499
NM_001376.5(DYNC1H1):c.6222-4C>T rs1382280530
NM_001376.5(DYNC1H1):c.6240C>G (p.Leu2080=) rs2048243538
NM_001376.5(DYNC1H1):c.6728G>T (p.Arg2243Ile) rs1595615102
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu) rs769311346
NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=) rs2048305907
NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=) rs759580840
NM_001376.5(DYNC1H1):c.7296G>C (p.Leu2432=) rs2048315206
NM_001376.5(DYNC1H1):c.7848+13G>A rs1451487950
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) rs201272954
NM_001376.5(DYNC1H1):c.8178-19C>T rs755564157
NM_001376.5(DYNC1H1):c.8343+9_8343+10del rs769162724
NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=) rs2047850441
NM_001376.5(DYNC1H1):c.8638-7dup rs2048453799
NM_001376.5(DYNC1H1):c.8772-13C>T rs2048460576
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=) rs151255069
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=) rs2295445
NM_001376.5(DYNC1H1):c.9703G>C (p.Ala3235Pro) rs199966256
NM_001376.5(DYNC1H1):c.9858A>C (p.Glu3286Asp) rs756906168

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