ClinVar Miner

List of variants in gene DCTN1 reported as benign for amyotrophic lateral sclerosis type 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=) rs13429423 0.04117
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met) rs13420401 0.03855
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_004082.5(DCTN1):c.1288-3C>T rs72466490 0.01285
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=) rs115689748 0.00250
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=) rs139061654 0.00215
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met) rs143763184 0.00179
NM_004082.5(DCTN1):c.2649C>T (p.Ser883=) rs140986485 0.00130
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=) rs142030960 0.00086
NM_004082.5(DCTN1):c.1998G>A (p.Thr666=) rs149900553 0.00061
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala) rs72466493 0.00024
NM_004082.5(DCTN1):c.1095G>A (p.Glu365=) rs115088049 0.00023
NM_004082.5(DCTN1):c.2019C>T (p.Ala673=) rs372482596 0.00016
NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg) rs143800457 0.00010
NM_004082.5(DCTN1):c.3573G>A (p.Gln1191=) rs137966704 0.00009
NM_004082.5(DCTN1):c.3546G>A (p.Ser1182=) rs149440626 0.00008
NM_004082.5(DCTN1):c.60G>A (p.Ala20=) rs150204862 0.00005
NM_004082.5(DCTN1):c.2646C>T (p.Ser882=) rs191073199 0.00004
NM_004082.5(DCTN1):c.2136T>C (p.Asp712=) rs147297927 0.00003
NM_004082.5(DCTN1):c.72C>T (p.Ala24=) rs368633620 0.00003
NM_004082.5(DCTN1):c.1702-7C>T rs554887316 0.00002
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=) rs146094433 0.00002
NM_004082.5(DCTN1):c.2629-4G>A rs201090138 0.00001
NM_004082.5(DCTN1):c.1585-16C>T
NM_004082.5(DCTN1):c.1854+20T>A rs369606521
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg) rs150928856
NM_004082.5(DCTN1):c.2623G>A (p.Glu875Lys)
NM_004082.5(DCTN1):c.2761-19C>G rs200545447
NM_004082.5(DCTN1):c.280-34_280-12dup rs762313810
NM_004082.5(DCTN1):c.3212-14dup
NM_004082.5(DCTN1):c.3408T>C (p.His1136=)
NM_004082.5(DCTN1):c.3529+8C>T rs547520298
NM_004082.5(DCTN1):c.3699+12_3699+23del rs769645845
NM_004082.5(DCTN1):c.3699+18del
NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)
NM_004082.5(DCTN1):c.393+16del rs529200706
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066
NM_004082.5(DCTN1):c.810C>G (p.Ala270=) rs569011011
NM_004082.5(DCTN1):c.858G>T (p.Ala286=) rs151107870
NM_004082.5(DCTN1):c.999C>T (p.Asp333=) rs200952455

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