ClinVar Miner

List of variants in gene DYNC1H1 reported as benign for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (93):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 166
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1462-41G>A rs2983422 0.19200
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.13516-16C>T rs28669726 0.00656
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.-53G>A rs2273436 0.00446
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00357
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.8886+13G>A rs17541317 0.00322
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.306C>T (p.Asn102=) rs17540624 0.00177
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.12774C>T (p.Asn4258=) rs17512877 0.00110
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.3157-11T>C rs367593677 0.00103
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_001376.5(DYNC1H1):c.8637+12G>A rs17512551 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.5328G>A (p.Ala1776=) rs143258359 0.00083
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442 0.00078
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=) rs111459275 0.00075
NM_001376.5(DYNC1H1):c.12684+19A>G rs377124918 0.00068
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313 0.00063
NM_001376.5(DYNC1H1):c.12903-14C>T rs139935428 0.00060
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857 0.00056
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=) rs145405293 0.00052
NM_001376.5(DYNC1H1):c.11595+12T>C rs200110362 0.00046
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.13062C>T (p.Asp4354=) rs181697853 0.00044
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.5718A>C (p.Gly1906=) rs139070737 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.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_001376.5(DYNC1H1):c.9774A>G (p.Gln3258=) rs528520653 0.00026
NM_001376.5(DYNC1H1):c.13515+18G>A rs200633553 0.00025
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_001376.5(DYNC1H1):c.885G>A (p.Pro295=) rs34287672 0.00019
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=) rs192742245 0.00017
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500 0.00013
NM_001376.5(DYNC1H1):c.8584G>A (p.Asp2862Asn) rs139461837 0.00013
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453 0.00012
NM_001376.5(DYNC1H1):c.13667G>A (p.Cys4556Tyr) rs142519155 0.00011
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359 0.00011
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile) rs376456164 0.00011
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328 0.00010
NM_001376.5(DYNC1H1):c.11460+18_11460+57del rs768638049 0.00009
NM_001376.5(DYNC1H1):c.11691-4G>T rs201810550 0.00009
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194 0.00009
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873 0.00009
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830 0.00009
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) rs201720217 0.00009
NM_001376.5(DYNC1H1):c.12102+20C>T rs200362531 0.00008
NM_001376.5(DYNC1H1):c.2283A>G (p.Pro761=) rs202008601 0.00007
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412 0.00006
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469 0.00006
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377 0.00006
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299 0.00005
NM_001376.5(DYNC1H1):c.13212T>C (p.Asn4404=) rs373496930 0.00005
NM_001376.5(DYNC1H1):c.13407G>A (p.Val4469=) rs1445271324 0.00005
NM_001376.5(DYNC1H1):c.6029C>T (p.Pro2010Leu) rs747348966 0.00005
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) rs751092252 0.00004
NM_001376.5(DYNC1H1):c.2612A>G (p.His871Arg) rs368026551 0.00004
NM_001376.5(DYNC1H1):c.5239-12T>C rs377506256 0.00004
NM_001376.5(DYNC1H1):c.5364C>T (p.Thr1788=) rs748651294 0.00004
NM_001376.5(DYNC1H1):c.5594A>G (p.Lys1865Arg) rs146678667 0.00004
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=) rs17540728 0.00003
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790 0.00003
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr) rs748133009 0.00003
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=) rs373334821 0.00003
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile) rs561339487 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp) rs1332342693 0.00002
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val) rs201971718 0.00002
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694 0.00002
NM_001376.5(DYNC1H1):c.3765C>T (p.Thr1255=) rs150953878 0.00002
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn) rs776226690 0.00002
NM_001376.5(DYNC1H1):c.5717-8T>G rs748085549 0.00002
NM_001376.5(DYNC1H1):c.6660G>A (p.Leu2220=) rs567417919 0.00002
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys) rs780160519 0.00002
NM_001376.5(DYNC1H1):c.11749A>C (p.Ser3917Arg) rs201024297 0.00001
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293 0.00001
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn) rs749297332 0.00001
NM_001376.5(DYNC1H1):c.13449C>T (p.Ser4483=) rs112444677 0.00001
NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser) rs571005578 0.00001
NM_001376.5(DYNC1H1):c.270T>C (p.Asp90=) rs760330950 0.00001
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289 0.00001
NM_001376.5(DYNC1H1):c.5818-17C>A rs563758908 0.00001
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=) rs549582489 0.00001
NM_001376.5(DYNC1H1):c.7627G>A (p.Gly2543Arg) rs892693926 0.00001
NM_001376.5(DYNC1H1):c.11055+22dup rs777865098
NM_001376.5(DYNC1H1):c.1122T>A (p.Ile374=) rs777210028
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=) rs143574214
NM_001376.5(DYNC1H1):c.12355C>A (p.His4119Asn)
NM_001376.5(DYNC1H1):c.12564G>A (p.Ala4188=) rs370064490
NM_001376.5(DYNC1H1):c.12685-3del rs751203379
NM_001376.5(DYNC1H1):c.13118G>A (p.Arg4373His) rs1366928812
NM_001376.5(DYNC1H1):c.13515+17C>G
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.314T>C (p.Ile105Thr)
NM_001376.5(DYNC1H1):c.3296A>G (p.Lys1099Arg)
NM_001376.5(DYNC1H1):c.3565-12dup
NM_001376.5(DYNC1H1):c.3804+20del
NM_001376.5(DYNC1H1):c.6144A>G (p.Leu2048=)
NM_001376.5(DYNC1H1):c.6222-20C>A rs200368499
NM_001376.5(DYNC1H1):c.6222-9_6222-7del rs747347010
NM_001376.5(DYNC1H1):c.6324C>A (p.Ile2108=)
NM_001376.5(DYNC1H1):c.6858-15dup
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu) rs769311346
NM_001376.5(DYNC1H1):c.7158G>A (p.Pro2386=) rs773186619
NM_001376.5(DYNC1H1):c.9469-8del
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=) rs2295445
NM_001376.5(DYNC1H1):c.9643-6C>T

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.