ClinVar Miner

Variants in gene DCTN1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
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.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.2761-18C>T rs549475401 0.00209
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_004082.5(DCTN1):c.280-3C>T rs114364621 0.00094
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.3501C>T (p.His1167=) rs569997015 0.00012
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg) rs150928856
NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys) rs146083590
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066

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