ClinVar Miner

List of variants reported as uncertain significance for Primary ciliary dyskinesia 28

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ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser) rs544372581 0.00250
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu) rs142031266 0.00181
NM_003114.5(SPAG1):c.1307C>T (p.Pro436Leu) rs761617724 0.00134
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro) rs141605537 0.00093
NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr) rs149271265 0.00042
NM_003114.5(SPAG1):c.419T>C (p.Val140Ala) rs895776124 0.00038
NM_003114.5(SPAG1):c.2717A>G (p.Asp906Gly) rs199727770 0.00037
NM_003114.5(SPAG1):c.713C>T (p.Ala238Val) rs755306741 0.00026
NM_003114.5(SPAG1):c.845G>A (p.Arg282His) rs144608097 0.00022
NM_003114.5(SPAG1):c.2707G>A (p.Asp903Asn) rs148756457 0.00021
NM_003114.5(SPAG1):c.1406C>G (p.Ser469Trp) rs756472753 0.00019
NM_003114.5(SPAG1):c.1562T>C (p.Met521Thr) rs140258045 0.00019
NM_003114.5(SPAG1):c.476C>T (p.Ala159Val) rs370505284 0.00019
NM_003114.5(SPAG1):c.842G>A (p.Arg281His) rs369126472 0.00019
NM_003114.5(SPAG1):c.1360G>C (p.Glu454Gln) rs878855237 0.00018
NM_003114.5(SPAG1):c.2515A>T (p.Met839Leu) rs142674953 0.00017
NM_003114.5(SPAG1):c.146G>A (p.Gly49Asp) rs373595762 0.00014
NM_003114.5(SPAG1):c.902A>G (p.Lys301Arg) rs199515118 0.00013
NM_003114.5(SPAG1):c.1580G>A (p.Arg527Gln) rs150325048 0.00010
NM_003114.5(SPAG1):c.1848C>T (p.Gly616=) rs148562317 0.00010
NM_003114.5(SPAG1):c.2633A>C (p.Lys878Thr) rs144327310 0.00010
NM_003114.5(SPAG1):c.1954A>T (p.Ile652Phe) rs143621160 0.00009
NM_003114.5(SPAG1):c.496G>A (p.Val166Met) rs201503190 0.00009
NM_003114.5(SPAG1):c.985G>T (p.Ala329Ser) rs543044004 0.00007
NM_003114.5(SPAG1):c.1084G>A (p.Gly362Ser) rs755866717 0.00006
NM_003114.5(SPAG1):c.239C>T (p.Pro80Leu) rs144464217 0.00006
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.560A>C (p.His187Pro) rs140986857 0.00005
NM_003114.5(SPAG1):c.1096+5A>C rs768916975 0.00004
NM_003114.5(SPAG1):c.1579C>T (p.Arg527Trp) rs777137396 0.00004
NM_003114.5(SPAG1):c.1591T>C (p.Tyr531His) rs148641104 0.00004
NM_003114.5(SPAG1):c.2021A>G (p.Glu674Gly) rs777946738 0.00004
NM_003114.5(SPAG1):c.2407C>T (p.Pro803Ser) rs753601332 0.00004
NM_003114.5(SPAG1):c.427-3T>C rs778136474 0.00004
NM_003114.5(SPAG1):c.133G>A (p.Val45Met) rs764448315 0.00003
NM_003114.5(SPAG1):c.141A>T (p.Arg47Ser) rs529265811 0.00003
NM_003114.5(SPAG1):c.2533C>G (p.Leu845Val) rs778546131 0.00003
NM_003114.5(SPAG1):c.395G>A (p.Arg132His) rs545486340 0.00003
NM_003114.5(SPAG1):c.1730G>A (p.Arg577Gln) rs774918839 0.00002
NM_003114.5(SPAG1):c.1837C>T (p.Arg613Cys) rs201629491 0.00002
NM_003114.5(SPAG1):c.1936T>C (p.Tyr646His) rs972610161 0.00002
NM_003114.5(SPAG1):c.1951A>C (p.Lys651Gln) rs1004492870 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.1042G>A (p.Glu348Lys) rs1060503106 0.00001
NM_003114.5(SPAG1):c.1193G>A (p.Arg398Gln) rs772098225 0.00001
NM_003114.5(SPAG1):c.1201A>G (p.Arg401Gly) rs1448300734 0.00001
NM_003114.5(SPAG1):c.1373G>T (p.Ser458Ile) rs1350224788 0.00001
NM_003114.5(SPAG1):c.1679G>A (p.Ser560Asn) rs772718898 0.00001
NM_003114.5(SPAG1):c.1762G>C (p.Ala588Pro) rs750270074 0.00001
NM_003114.5(SPAG1):c.1924G>A (p.Ala642Thr) rs773145801 0.00001
NM_003114.5(SPAG1):c.2066G>A (p.Gly689Glu) rs745853774 0.00001
NM_003114.5(SPAG1):c.208C>G (p.Pro70Ala) rs1468747674 0.00001
NM_003114.5(SPAG1):c.2174T>C (p.Ile725Thr) rs746832645 0.00001
NM_003114.5(SPAG1):c.2212C>A (p.Leu738Ile) rs768030549 0.00001
NM_003114.5(SPAG1):c.2252A>G (p.Lys751Arg) rs1429800529 0.00001
NM_003114.5(SPAG1):c.2281G>T (p.Val761Leu) rs758568364 0.00001
NM_003114.5(SPAG1):c.2364C>G (p.Ser788Arg) rs778436096 0.00001
NM_003114.5(SPAG1):c.2396C>T (p.Pro799Leu) rs767385731 0.00001
NM_003114.5(SPAG1):c.2752C>T (p.Gln918Ter) rs780337450 0.00001
NM_003114.5(SPAG1):c.547A>G (p.Ile183Val) rs751142825 0.00001
NM_003114.5(SPAG1):c.548T>C (p.Ile183Thr) rs754428256 0.00001
NM_003114.5(SPAG1):c.662A>G (p.Asn221Ser) rs918123832 0.00001
NM_003114.5(SPAG1):c.734A>G (p.Tyr245Cys) rs372197260 0.00001
NM_003114.5(SPAG1):c.890A>G (p.Glu297Gly) rs779765255 0.00001
NM_003114.5(SPAG1):c.89T>C (p.Ile30Thr) rs1278777571 0.00001
NM_003114.5(SPAG1):c.911A>G (p.Asp304Gly) rs746323609 0.00001
NM_003114.5(SPAG1):c.977C>T (p.Ser326Phe) rs777488014 0.00001
NC_000008.10:g.(?_101190024)_(101253250_?)del
NC_000008.11:g.(?_100225153)_(100231308_?)del
NM_003114.5(SPAG1):c.1013G>T (p.Arg338Met) rs2132289649
NM_003114.5(SPAG1):c.1017G>A (p.Met339Ile)
NM_003114.5(SPAG1):c.1047T>A (p.Asp349Glu)
NM_003114.5(SPAG1):c.105T>G (p.Asp35Glu) rs759906925
NM_003114.5(SPAG1):c.1063G>A (p.Gly355Arg)
NM_003114.5(SPAG1):c.1115G>A (p.Gly372Glu)
NM_003114.5(SPAG1):c.1180G>A (p.Glu394Lys)
NM_003114.5(SPAG1):c.1181A>G (p.Glu394Gly)
NM_003114.5(SPAG1):c.1189A>C (p.Lys397Gln) rs1246342969
NM_003114.5(SPAG1):c.1205G>T (p.Gly402Val)
NM_003114.5(SPAG1):c.1229C>G (p.Pro410Arg) rs971341609
NM_003114.5(SPAG1):c.1232A>C (p.Glu411Ala)
NM_003114.5(SPAG1):c.1249C>G (p.Arg417Gly) rs1464845313
NM_003114.5(SPAG1):c.1252A>G (p.Ser418Gly) rs1817812342
NM_003114.5(SPAG1):c.1259G>C (p.Arg420Pro)
NM_003114.5(SPAG1):c.126T>G (p.Ile42Met)
NM_003114.5(SPAG1):c.1271C>G (p.Ala424Gly) rs1586496414
NM_003114.5(SPAG1):c.1271C>T (p.Ala424Val)
NM_003114.5(SPAG1):c.1271CGG[6] (p.Ala428dup) rs962670800
NM_003114.5(SPAG1):c.1293_1316del (p.Ala432_Gly439del) rs781380303
NM_003114.5(SPAG1):c.1307C>A (p.Pro436Gln) rs761617724
NM_003114.5(SPAG1):c.1314C>T (p.Gly438=)
NM_003114.5(SPAG1):c.1332C>A (p.Asn444Lys)
NM_003114.5(SPAG1):c.1350C>G (p.Ser450Arg)
NM_003114.5(SPAG1):c.1364T>G (p.Leu455Arg)
NM_003114.5(SPAG1):c.1399A>G (p.Lys467Glu)
NM_003114.5(SPAG1):c.1435+4G>C
NM_003114.5(SPAG1):c.1436-5T>G
NM_003114.5(SPAG1):c.1467A>C (p.Leu489Phe) rs977950141
NM_003114.5(SPAG1):c.1478G>C (p.Arg493Thr)
NM_003114.5(SPAG1):c.1510A>G (p.Ser504Gly)
NM_003114.5(SPAG1):c.1536-10_1536-9delinsCG rs2132386928
NM_003114.5(SPAG1):c.1561A>G (p.Met521Val) rs745418167
NM_003114.5(SPAG1):c.1562T>G (p.Met521Arg) rs140258045
NM_003114.5(SPAG1):c.1565A>C (p.Lys522Thr)
NM_003114.5(SPAG1):c.16T>C (p.Tyr6His)
NM_003114.5(SPAG1):c.1790C>T (p.Pro597Leu)
NM_003114.5(SPAG1):c.1841A>C (p.Gln614Pro) rs912740405
NM_003114.5(SPAG1):c.1960A>G (p.Asn654Asp) rs1818756163
NM_003114.5(SPAG1):c.1961A>G (p.Asn654Ser) rs763758961
NM_003114.5(SPAG1):c.1975A>C (p.Ile659Leu)
NM_003114.5(SPAG1):c.1982C>T (p.Thr661Ile)
NM_003114.5(SPAG1):c.1985A>C (p.Asn662Thr)
NM_003114.5(SPAG1):c.2062G>A (p.Asp688Asn)
NM_003114.5(SPAG1):c.2104A>G (p.Lys702Glu)
NM_003114.5(SPAG1):c.2133A>C (p.Leu711Phe)
NM_003114.5(SPAG1):c.2144A>G (p.Asn715Ser) rs771009402
NM_003114.5(SPAG1):c.2189A>C (p.Glu730Ala) rs1479365252
NM_003114.5(SPAG1):c.2194G>A (p.Glu732Lys) rs2132443145
NM_003114.5(SPAG1):c.2204C>T (p.Thr735Ile) rs1819149329
NM_003114.5(SPAG1):c.2215A>C (p.Asn739His)
NM_003114.5(SPAG1):c.2224G>A (p.Asp742Asn) rs754229235
NM_003114.5(SPAG1):c.2224G>T (p.Asp742Tyr)
NM_003114.5(SPAG1):c.2256G>C (p.Glu752Asp) rs1478952612
NM_003114.5(SPAG1):c.2297A>G (p.Glu766Gly)
NM_003114.5(SPAG1):c.2330_2331inv (p.Met777Thr)
NM_003114.5(SPAG1):c.2339T>C (p.Leu780Pro) rs755897469
NM_003114.5(SPAG1):c.2341G>C (p.Ala781Pro) rs2132446476
NM_003114.5(SPAG1):c.2386G>A (p.Glu796Lys) rs751735079
NM_003114.5(SPAG1):c.2392C>T (p.Leu798Phe) rs1819213979
NM_003114.5(SPAG1):c.2419T>C (p.Tyr807His) rs1204341591
NM_003114.5(SPAG1):c.2446C>G (p.Leu816Val)
NM_003114.5(SPAG1):c.2446C>T (p.Leu816Phe) rs1221177130
NM_003114.5(SPAG1):c.2505A>T (p.Lys835Asn) rs1177759013
NM_003114.5(SPAG1):c.2512C>T (p.Pro838Ser) rs1563820253
NM_003114.5(SPAG1):c.2557C>T (p.Leu853Phe) rs1563820362
NM_003114.5(SPAG1):c.2561T>C (p.Ile854Thr) rs2132447595
NM_003114.5(SPAG1):c.2609A>C (p.Tyr870Ser)
NM_003114.5(SPAG1):c.2623T>C (p.Tyr875His) rs1161354171
NM_003114.5(SPAG1):c.2634dup (p.Ala879fs) rs780342865
NM_003114.5(SPAG1):c.2690T>C (p.Ile897Thr)
NM_003114.5(SPAG1):c.2720C>T (p.Thr907Ile)
NM_003114.5(SPAG1):c.2726del (p.Asn909fs) rs777302538
NM_003114.5(SPAG1):c.2728A>C (p.Asn910His) rs1054502421
NM_003114.5(SPAG1):c.290G>A (p.Gly97Asp) rs1175188961
NM_003114.5(SPAG1):c.295A>G (p.Ile99Val)
NM_003114.5(SPAG1):c.324AGA[2] (p.Glu110del) rs1256907229
NM_003114.5(SPAG1):c.422G>A (p.Gly141Asp) rs1345807674
NM_003114.5(SPAG1):c.475G>A (p.Ala159Thr)
NM_003114.5(SPAG1):c.513A>C (p.Leu171Phe)
NM_003114.5(SPAG1):c.520G>A (p.Asp174Asn) rs1277584118
NM_003114.5(SPAG1):c.542C>T (p.Thr181Met)
NM_003114.5(SPAG1):c.626C>T (p.Ala209Val)
NM_003114.5(SPAG1):c.670G>T (p.Asp224Tyr)
NM_003114.5(SPAG1):c.740A>G (p.Asn247Ser)
NM_003114.5(SPAG1):c.752C>G (p.Ala251Gly)
NM_003114.5(SPAG1):c.798A>C (p.Glu266Asp) rs139329487
NM_003114.5(SPAG1):c.801G>T (p.Lys267Asn)
NM_003114.5(SPAG1):c.826G>A (p.Val276Ile)
NM_003114.5(SPAG1):c.832+5A>G
NM_003114.5(SPAG1):c.841C>T (p.Arg281Cys)
NM_003114.5(SPAG1):c.878G>A (p.Arg293Gln) rs750321216
NM_003114.5(SPAG1):c.88A>G (p.Ile30Val)

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