ClinVar Miner

List of variants in gene SPAG1 reported as uncertain significance for Primary ciliary dyskinesia

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn) rs148883126 0.00138
NM_003114.5(SPAG1):c.2717A>G (p.Asp906Gly) rs199727770 0.00038
NM_003114.5(SPAG1):c.2707G>A (p.Asp903Asn) rs148756457 0.00021
NM_003114.5(SPAG1):c.1562T>C (p.Met521Thr) rs140258045 0.00019
NM_003114.5(SPAG1):c.842G>A (p.Arg281His) rs369126472 0.00019
NM_003114.5(SPAG1):c.88A>G (p.Ile30Val) rs550123264 0.00019
NM_003114.5(SPAG1):c.2515A>T (p.Met839Leu) rs142674953 0.00017
NM_003114.5(SPAG1):c.1790C>T (p.Pro597Leu) rs139376770 0.00013
NM_003114.5(SPAG1):c.2633A>C (p.Lys878Thr) rs144327310 0.00009
NM_003114.5(SPAG1):c.496G>A (p.Val166Met) rs201503190 0.00009
NM_003114.5(SPAG1):c.1954A>T (p.Ile652Phe) rs143621160 0.00007
NM_003114.5(SPAG1):c.2458A>G (p.Lys820Glu) rs369552222 0.00006
NM_003114.5(SPAG1):c.2084A>G (p.Tyr695Cys) rs146786187 0.00005
NM_003114.5(SPAG1):c.401C>T (p.Ser134Leu) rs934869420 0.00005
NM_003114.5(SPAG1):c.542C>T (p.Thr181Met) rs373564145 0.00005
NM_003114.5(SPAG1):c.560A>C (p.His187Pro) rs140986857 0.00005
NM_003114.5(SPAG1):c.1510A>G (p.Ser504Gly) rs775610872 0.00004
NM_003114.5(SPAG1):c.1863A>C (p.Lys621Asn) rs779570829 0.00004
NM_003114.5(SPAG1):c.475G>A (p.Ala159Thr) rs376138862 0.00004
NM_003114.5(SPAG1):c.133G>A (p.Val45Met) rs764448315 0.00003
NM_003114.5(SPAG1):c.1579C>T (p.Arg527Trp) rs777137396 0.00003
NM_003114.5(SPAG1):c.2750T>C (p.Ile917Thr) rs527455729 0.00003
NM_003114.5(SPAG1):c.395G>A (p.Arg132His) rs545486340 0.00003
NM_003114.5(SPAG1):c.1462A>T (p.Ile488Phe) rs761225786 0.00002
NM_003114.5(SPAG1):c.1870A>G (p.Lys624Glu) rs376669961 0.00002
NM_003114.5(SPAG1):c.2152A>G (p.Ile718Val) rs772190296 0.00002
NM_003114.5(SPAG1):c.2281G>T (p.Val761Leu) rs758568364 0.00002
NM_003114.5(SPAG1):c.2399T>C (p.Ile800Thr) rs199998543 0.00002
NM_003114.5(SPAG1):c.2473T>C (p.Cys825Arg) rs1240396981 0.00002
NM_003114.5(SPAG1):c.2513C>T (p.Pro838Leu) rs767575038 0.00002
NM_003114.5(SPAG1):c.632G>A (p.Arg211His) rs181068659 0.00002
NM_003114.5(SPAG1):c.1042G>A (p.Glu348Lys) rs1060503106 0.00001
NM_003114.5(SPAG1):c.141A>T (p.Arg47Ser) rs529265811 0.00001
NM_003114.5(SPAG1):c.1512T>G (p.Ser504Arg) rs768753920 0.00001
NM_003114.5(SPAG1):c.1924G>A (p.Ala642Thr) rs773145801 0.00001
NM_003114.5(SPAG1):c.208C>G (p.Pro70Ala) rs1468747674 0.00001
NM_003114.5(SPAG1):c.2396C>T (p.Pro799Leu) rs767385731 0.00001
NM_003114.5(SPAG1):c.2560A>T (p.Ile854Phe) rs779684298 0.00001
NM_003114.5(SPAG1):c.2623T>C (p.Tyr875His) rs1161354171 0.00001
NM_003114.5(SPAG1):c.2666T>C (p.Ile889Thr) rs920348320 0.00001
NM_003114.5(SPAG1):c.2771A>G (p.Tyr924Cys) rs2489650678 0.00001
NM_003114.5(SPAG1):c.292G>T (p.Asp98Tyr) rs1462272281 0.00001
NM_003114.5(SPAG1):c.662A>G (p.Asn221Ser) rs918123832 0.00001
NM_003114.5(SPAG1):c.1013G>T (p.Arg338Met) rs2132289649
NM_003114.5(SPAG1):c.1014G>T (p.Arg338Ser)
NM_003114.5(SPAG1):c.103G>A (p.Asp35Asn) rs1347815407
NM_003114.5(SPAG1):c.1051G>C (p.Glu351Gln)
NM_003114.5(SPAG1):c.105T>G (p.Asp35Glu) rs759906925
NM_003114.5(SPAG1):c.1456C>A (p.Leu486Ile)
NM_003114.5(SPAG1):c.1636A>G (p.Thr546Ala)
NM_003114.5(SPAG1):c.1669G>A (p.Ala557Thr) rs1340187889
NM_003114.5(SPAG1):c.1689G>C (p.Arg563Ser)
NM_003114.5(SPAG1):c.169C>A (p.Leu57Ile)
NM_003114.5(SPAG1):c.1841A>C (p.Gln614Pro) rs912740405
NM_003114.5(SPAG1):c.1898G>A (p.Cys633Tyr) rs1818753657
NM_003114.5(SPAG1):c.1990G>A (p.Ala664Thr)
NM_003114.5(SPAG1):c.2038T>C (p.Cys680Arg)
NM_003114.5(SPAG1):c.2236C>G (p.Pro746Ala)
NM_003114.5(SPAG1):c.2246A>C (p.Lys749Thr)
NM_003114.5(SPAG1):c.2300A>G (p.Glu767Gly) rs2489643013
NM_003114.5(SPAG1):c.2420A>G (p.Tyr807Cys)
NM_003114.5(SPAG1):c.2459A>C (p.Lys820Thr) rs1322757927
NM_003114.5(SPAG1):c.2548T>C (p.Phe850Leu) rs958028536
NM_003114.5(SPAG1):c.2620T>A (p.Leu874Ile)
NM_003114.5(SPAG1):c.2638G>C (p.Glu880Gln)
NM_003114.5(SPAG1):c.2650-2A>G rs761808613
NM_003114.5(SPAG1):c.2674G>C (p.Gly892Arg)
NM_003114.5(SPAG1):c.2752C>G (p.Gln918Glu)
NM_003114.5(SPAG1):c.412C>T (p.Leu138Phe)
NM_003114.5(SPAG1):c.518T>C (p.Ile173Thr) rs188430751
NM_003114.5(SPAG1):c.576G>T (p.Glu192Asp)
NM_003114.5(SPAG1):c.631C>A (p.Arg211Ser)
NM_003114.5(SPAG1):c.631C>T (p.Arg211Cys)
NM_003114.5(SPAG1):c.640G>C (p.Glu214Gln)
NM_003114.5(SPAG1):c.683C>A (p.Ala228Glu)
NM_003114.5(SPAG1):c.724G>C (p.Val242Leu)
NM_003114.5(SPAG1):c.742C>G (p.Arg248Gly)
NM_003114.5(SPAG1):c.851C>T (p.Thr284Ile) rs2489341564

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