ClinVar Miner

List of variants in gene SPAG1 reported as pathogenic for ciliopathy

Included ClinVar conditions (273):
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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs) rs751845138 0.00009
NM_003114.5(SPAG1):c.1519dup (p.Ile507fs) rs763569711 0.00004
NM_003114.5(SPAG1):c.742C>T (p.Arg248Ter) rs770777381 0.00004
NM_003114.5(SPAG1):c.1096A>T (p.Lys366Ter) rs747483177 0.00001
NM_003114.5(SPAG1):c.1156C>T (p.Gln386Ter) rs1229952265 0.00001
NM_003114.5(SPAG1):c.1663C>T (p.Gln555Ter) rs770251775 0.00001
NM_003114.5(SPAG1):c.1785G>A (p.Trp595Ter) rs1818457032 0.00001
NM_003114.5(SPAG1):c.2089C>T (p.Arg697Ter) rs1434601711 0.00001
NM_003114.5(SPAG1):c.311C>A (p.Ser104Ter) rs1275662909 0.00001
NM_003114.5(SPAG1):c.319A>T (p.Lys107Ter) rs752479330 0.00001
NC_000008.10:g.(?_101174509)_(101174668_?)del
NC_000008.11:g.(?_100162261)_(100162440_?)del
NC_000008.11:g.(?_100162279)_(100162420_?)del
NC_000008.11:g.(?_100187100)_(100187270_?)del
NM_003114.5(SPAG1):c.1012del (p.Arg338fs) rs2132289617
NM_003114.5(SPAG1):c.1024C>T (p.Gln342Ter)
NM_003114.5(SPAG1):c.1097-11C>G
NM_003114.5(SPAG1):c.1113_1149del (p.Gly372fs) rs771209739
NM_003114.5(SPAG1):c.1119del (p.Ala374fs) rs1244721341
NM_003114.5(SPAG1):c.1584_1606del (p.Met529fs)
NM_003114.5(SPAG1):c.1637_1638del (p.Thr546fs) rs1818211696
NM_003114.5(SPAG1):c.1687_1688del (p.Arg563fs)
NM_003114.5(SPAG1):c.1864dup (p.Thr622fs) rs1380083184
NM_003114.5(SPAG1):c.2085_2086del (p.Tyr695_Arg696delinsTer) rs1563815206
NM_003114.5(SPAG1):c.2136_2139del (p.Asp713fs) rs2132442885
NM_003114.5(SPAG1):c.2200_2203del (p.Val734fs) rs1819149009
NM_003114.5(SPAG1):c.2367del (p.Ser789fs)
NM_003114.5(SPAG1):c.237dup (p.Pro80fs)
NM_003114.5(SPAG1):c.2542del (p.Asp848fs) rs886037653
NM_003114.5(SPAG1):c.2577del (p.Asn859fs)
NM_003114.5(SPAG1):c.2T>G (p.Met1Arg) rs397518458
NM_003114.5(SPAG1):c.324dup (p.Glu109fs)
NM_003114.5(SPAG1):c.325_326del (p.Glu109fs) rs1060503107
NM_003114.5(SPAG1):c.427-1065_630del
NM_003114.5(SPAG1):c.557del (p.Ser186fs) rs2132258789
NM_003114.5(SPAG1):c.595+1G>A
NM_003114.5(SPAG1):c.600_603del (p.Thr201fs) rs1258068273
NM_003114.5(SPAG1):c.762del (p.Lys254fs) rs1816621138

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