ClinVar Miner

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

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Total variants: 187
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HGVS dbSNP
NM_001376.5(DYNC1H1):c.-5A>G rs17511858
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=) rs772665813
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=) rs184264124
NM_001376.5(DYNC1H1):c.10414-13G>A rs17541421
NM_001376.5(DYNC1H1):c.10626+12G>A rs0
NM_001376.5(DYNC1H1):c.10626+7A>G rs1427174553
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=) rs0
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) rs1595626695
NM_001376.5(DYNC1H1):c.10754+10C>T rs0
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=) rs0
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=) rs0
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009
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.11424C>T (p.Cys3808=) rs0
NM_001376.5(DYNC1H1):c.11595+20C>T rs0
NM_001376.5(DYNC1H1):c.11596-20G>A rs372623721
NM_001376.5(DYNC1H1):c.11618G>C (p.Arg3873Pro) rs745812006
NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=) rs0
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met) rs0
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.5(DYNC1H1):c.12102+20C>T rs0
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val) rs0
NM_001376.5(DYNC1H1):c.12276-17T>C rs0
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) rs1260546515
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839
NM_001376.5(DYNC1H1):c.12513+17C>T rs368189529
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=) rs143936619
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu) rs0
NM_001376.5(DYNC1H1):c.12684+14A>G rs200392758
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.12902+46G>A rs2273440
NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=) rs1566997875
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg) rs1206639344
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055
NM_001376.5(DYNC1H1):c.13218+18G>A rs0
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.5(DYNC1H1):c.13372+14C>T rs0
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=) rs0
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.5(DYNC1H1):c.13515+9G>A rs374678076
NM_001376.5(DYNC1H1):c.13516-18G>C rs0
NM_001376.5(DYNC1H1):c.13565C>T (p.Thr4522Ile) rs1595637702
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys) rs0
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys) rs753454594
NM_001376.5(DYNC1H1):c.13869C>T (p.Asp4623=) rs0
NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=) rs0
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp) rs200224597
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=) rs1022735666
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=) rs749887344
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile) rs1383117534
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=) rs1595601645
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) rs75113705
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529
NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=) rs0
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) rs772761222
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val) rs0
NM_001376.5(DYNC1H1):c.3845T>G (p.Ile1282Arg) rs1479995920
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3960+16G>A rs0
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.4074+11A>T rs368040742
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) rs112261870
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967
NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile) rs0
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=) rs764884119
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln) rs0
NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln) rs0
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.519-17A>G rs0
NM_001376.5(DYNC1H1):c.519-3dup rs0
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=) rs0
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5433+17dup rs140185574
NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His) rs0
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=) rs0
NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=) rs0
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=) rs142726284
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.5(DYNC1H1):c.6023T>G (p.Val2008Gly) rs1595613980
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088
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=) rs0
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) rs759525537
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977
NM_001376.5(DYNC1H1):c.6619-19G>A rs747037096
NM_001376.5(DYNC1H1):c.6728G>T (p.Arg2243Ile) rs1595615102
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu) rs0
NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=) rs0
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=) rs0
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548
NM_001376.5(DYNC1H1):c.7296G>C (p.Leu2432=) rs0
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) rs0
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) rs201720217
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.5(DYNC1H1):c.7848+13G>A rs0
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) rs201272954
NM_001376.5(DYNC1H1):c.8178-19C>T rs0
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=) rs0
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8343+9_8343+10del rs0
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=) rs0
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=) rs0
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156
NM_001376.5(DYNC1H1):c.8638-7dup rs0
NM_001376.5(DYNC1H1):c.8772-13C>T rs0
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.5(DYNC1H1):c.9048+16G>A rs0
NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=) rs0
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=) rs371538443
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) rs1595623556
NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=) rs572233805
NM_001376.5(DYNC1H1):c.9468+9A>G rs0
NM_001376.5(DYNC1H1):c.9469-20A>T rs2720210
NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=) rs0
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.9762+9T>G rs376545350
NM_001376.5(DYNC1H1):c.9858A>C (p.Glu3286Asp) rs756906168

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