ClinVar Miner

List of variants in gene SPAG1 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.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.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.2399T>C (p.Ile800Thr) rs199998543 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.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.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.126T>G (p.Ile42Met)
NM_003114.5(SPAG1):c.1436-5T>G
NM_003114.5(SPAG1):c.1464C>T (p.Ile488=)
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.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.1985A>C (p.Asn662Thr)
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.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.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.2623T>C (p.Tyr875His) rs1161354171
NM_003114.5(SPAG1):c.2690T>C (p.Ile897Thr)
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.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.740A>G (p.Asn247Ser)
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.