ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease axonal type 2O

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
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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.8928A>G (p.Leu2976=) rs8010870 0.14754
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.*190A>G rs13901 0.04745
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_001376.5(DYNC1H1):c.*232C>T rs17512996 0.03685
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.9138G>T (p.Ser3046=) rs34338935 0.00261
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.9264-8T>G rs368432468 0.00123
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.9069A>G (p.Gly3023=) rs532073330
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

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