ClinVar Miner

List of variants in gene SPAG1 reported as likely benign for Primary ciliary dyskinesia

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_003114.5(SPAG1):c.1542G>A (p.Leu514=) rs117747863 0.00319
NM_003114.5(SPAG1):c.1103C>T (p.Ala368Val) rs752257877 0.00285
NM_003114.5(SPAG1):c.2479C>T (p.His827Tyr) rs6510 0.00200
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn) rs148883126 0.00138
NM_003114.5(SPAG1):c.398G>A (p.Gly133Asp) rs147984546 0.00111
NM_003114.5(SPAG1):c.2601A>G (p.Ser867=) rs138311726 0.00065
NM_003114.5(SPAG1):c.957T>A (p.Val319=) rs146528350 0.00041
NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr) rs149271265 0.00037
NM_003114.5(SPAG1):c.713C>T (p.Ala238Val) rs755306741 0.00026
NM_003114.5(SPAG1):c.1128C>T (p.Ala376=) rs757793042 0.00021
NM_003114.5(SPAG1):c.1923C>T (p.Asp641=) rs143972848 0.00018
NM_003114.5(SPAG1):c.1119C>T (p.Ala373=) rs1368158185 0.00015
NM_003114.5(SPAG1):c.639G>A (p.Lys213=) rs751691673 0.00011
NM_003114.5(SPAG1):c.132C>T (p.Cys44=) rs376986262 0.00009
NM_003114.5(SPAG1):c.2444C>T (p.Ala815Val) rs4734455 0.00009
NM_003114.5(SPAG1):c.2769G>A (p.Gln923=) rs768865173 0.00009
NM_003114.5(SPAG1):c.2397G>A (p.Pro799=) rs775891909 0.00007
NM_003114.5(SPAG1):c.495C>T (p.Asp165=) rs768687626 0.00007
NM_003114.5(SPAG1):c.1084G>A (p.Gly362Ser) rs755866717 0.00006
NM_003114.5(SPAG1):c.1713G>A (p.Leu571=) rs778146484 0.00004
NM_003114.5(SPAG1):c.1838G>A (p.Arg613His) rs147520866 0.00003
NM_003114.5(SPAG1):c.855A>T (p.Thr285=) rs753349181 0.00002
NM_003114.5(SPAG1):c.1083C>T (p.Gly361=) rs752424284 0.00001
NM_003114.5(SPAG1):c.1561A>G (p.Met521Val) rs745418167 0.00001
NM_003114.5(SPAG1):c.2211C>T (p.Leu737=) rs762424146 0.00001
NM_003114.5(SPAG1):c.2314G>T (p.Ala772Ser) rs757463105 0.00001
NM_003114.5(SPAG1):c.2385T>C (p.Pro795=) rs909523206 0.00001
NM_003114.5(SPAG1):c.2661A>G (p.Thr887=) rs773106106 0.00001
NM_003114.5(SPAG1):c.288T>C (p.Asp96=) rs1220772934 0.00001
NM_003114.5(SPAG1):c.543G>A (p.Thr181=) rs1056605409 0.00001
NM_003114.5(SPAG1):c.1830C>T (p.Ser610=) rs1179789423
NM_003114.5(SPAG1):c.1873G>A (p.Ala625Thr)
NM_003114.5(SPAG1):c.2331G>A (p.Met777Ile)
NM_003114.5(SPAG1):c.290G>A (p.Gly97Asp) rs1175188961
NM_003114.5(SPAG1):c.826G>A (p.Val276Ile) rs556715100
NM_003114.5(SPAG1):c.878G>A (p.Arg293Gln) rs750321216

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