ClinVar Miner

List of variants reported as benign for Primary ciliary dyskinesia 28 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_003114.5(SPAG1):c.2330T>C (p.Met777Thr) rs6511 0.63802
NM_003114.5(SPAG1):c.1097-20C>T rs3098659 0.32969
NM_003114.5(SPAG1):c.2715G>A (p.Ser905=) rs1788190 0.28744
NM_003114.5(SPAG1):c.991G>A (p.Glu331Lys) rs17335870 0.16498
NM_003114.5(SPAG1):c.939+13T>C rs3802149 0.16494
NM_003114.5(SPAG1):c.1059_1060insGAC (p.Lys353_Ser354insAsp) rs56246127 0.16465
NM_003114.5(SPAG1):c.669A>G (p.Gly223=) rs35592493 0.03738
NM_003114.5(SPAG1):c.427-16G>T rs28673878 0.03617
NM_003114.5(SPAG1):c.1536-9C>G rs112884253 0.02211
NM_003114.5(SPAG1):c.596G>C (p.Gly199Ala) rs35305781 0.00733
NM_003114.5(SPAG1):c.1586T>C (p.Met529Thr) rs78436093 0.00714
NM_003114.5(SPAG1):c.877C>T (p.Arg293Trp) rs138503542 0.00351
NM_003114.5(SPAG1):c.1584G>A (p.Ala528=) rs35252724 0.00346
NM_003114.5(SPAG1):c.1435+16C>T rs148767962 0.00330
NM_003114.5(SPAG1):c.1542G>A (p.Leu514=) rs117747863 0.00319
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val) rs373038988 0.00288
NM_003114.5(SPAG1):c.1103C>T (p.Ala368Val) rs752257877 0.00285
NM_003114.5(SPAG1):c.825C>T (p.Asn275=) rs150007121 0.00141
NM_003114.5(SPAG1):c.833-20T>C rs187175886 0.00103
NM_003114.5(SPAG1):c.1942G>A (p.Glu648Lys) rs187160521 0.00072
NM_003114.5(SPAG1):c.1759C>T (p.Pro587Ser) rs141555196 0.00053
NM_003114.5(SPAG1):c.957T>A (p.Val319=) rs146528350 0.00041
NM_003114.5(SPAG1):c.832+9del rs549475545 0.00024
NM_003114.5(SPAG1):c.474C>T (p.Tyr158=) rs74597335 0.00019
NM_003114.5(SPAG1):c.2529C>T (p.Asn843=) rs536210810 0.00011
NM_003114.5(SPAG1):c.701+18G>A rs759056211 0.00006
NM_003114.5(SPAG1):c.1338C>G (p.Ala446=) rs2514681
NM_003114.5(SPAG1):c.1436-3dup
NM_003114.5(SPAG1):c.1856-10dup rs750067550
NM_003114.5(SPAG1):c.427-11del rs2132256971
NM_003114.5(SPAG1):c.427-3dup rs1370870557

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