ClinVar Miner

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

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Total variants: 44
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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.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.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967 0.00110
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359 0.00011
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938 0.00008
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.962-15dup rs3830914

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