ClinVar Miner

List of variants in gene DCTN1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 24
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HGVS dbSNP gnomAD frequency
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.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.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004082.5(DCTN1):c.558G>A (p.Pro186=) rs201078804 0.00028
NM_004082.5(DCTN1):c.837G>A (p.Ala279=) rs72466489 0.00020
NM_004082.5(DCTN1):c.3212-10G>A rs201516838 0.00010
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=) rs371241720 0.00004
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln) rs759306485 0.00003
NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu) rs773897036 0.00002
NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys) rs771231109 0.00002
NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp) rs573012389 0.00002
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=) rs146094433 0.00002
NM_004082.5(DCTN1):c.3699+16G>A rs747490958 0.00002
NM_004082.5(DCTN1):c.2679C>T (p.Cys893=) rs1253918840 0.00001
NM_004082.5(DCTN1):c.42C>T (p.Ser14=) rs535554555 0.00001
NM_004082.5(DCTN1):c.280-34_280-12dup rs762313810
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066

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