ClinVar Miner

List of variants in gene DCTN1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_004082.5(DCTN1):c.837G>A (p.Ala279=) rs72466489 0.00020
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His) rs776489779 0.00013
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile) rs368273709 0.00010
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 0.00008
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) rs754780894 0.00007
NM_004082.5(DCTN1):c.60G>A (p.Ala20=) rs150204862 0.00005
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln) rs759306485 0.00003
NM_004082.5(DCTN1):c.1561C>T (p.Arg521Cys) rs756634587 0.00002
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met) rs766585070 0.00002
NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp) rs573012389 0.00002
NM_004082.5(DCTN1):c.1336C>T (p.Arg446Trp) rs1279930374 0.00001
NM_004082.5(DCTN1):c.1436G>A (p.Arg479His) rs1573159861 0.00001
NM_004082.5(DCTN1):c.2357A>G (p.Asp786Gly) rs752889408 0.00001
NM_004082.5(DCTN1):c.2511C>T (p.Val837=) rs377519506 0.00001
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr) rs769512188 0.00001
NM_004082.5(DCTN1):c.3241G>A (p.Val1081Met) rs764028925 0.00001
NM_004082.5(DCTN1):c.1048+3A>G
NM_004082.5(DCTN1):c.1262G>A (p.Ser421Asn) rs1674733608
NM_004082.5(DCTN1):c.1577A>G (p.His526Arg) rs1064797255
NM_004082.5(DCTN1):c.1595G>T (p.Arg532Leu) rs759306485
NM_004082.5(DCTN1):c.1685C>T (p.Thr562Ile)
NM_004082.5(DCTN1):c.1982G>T (p.Ser661Ile) rs1558938711
NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe) rs368531137
NM_004082.5(DCTN1):c.2147A>G (p.Asn716Ser)
NM_004082.5(DCTN1):c.2357A>T (p.Asp786Val)
NM_004082.5(DCTN1):c.2549A>T (p.Gln850Leu) rs75213803
NM_004082.5(DCTN1):c.3134T>C (p.Ile1045Thr) rs1187766749
NM_004082.5(DCTN1):c.3139G>A (p.Gly1047Arg) rs540125422
NM_004082.5(DCTN1):c.3346-8A>G
NM_004082.5(DCTN1):c.3397A>G (p.Lys1133Glu) rs1064797254
NM_004082.5(DCTN1):c.371C>T (p.Thr124Ile)
NM_004082.5(DCTN1):c.3731A>G (p.Tyr1244Cys) rs752422008
NM_004082.5(DCTN1):c.433-3C>T rs375832615
NM_004082.5(DCTN1):c.955G>A (p.Glu319Lys)
NM_004082.5(DCTN1):c.991C>T (p.Arg331Trp) rs1064797256

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