ClinVar Miner

List of variants in gene SPATA7 reported as uncertain significance for Leber congenital amaurosis 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) rs34682727 0.00218
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) rs151338404 0.00176
NM_018418.5(SPATA7):c.1490A>G (p.Lys497Arg) rs142122029 0.00041
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) rs150364664 0.00022
NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile) rs202230167 0.00021
NM_018418.5(SPATA7):c.387G>A (p.Pro129=) rs199727517 0.00021
NM_018418.5(SPATA7):c.1717A>G (p.Lys573Glu) rs148392950 0.00017
NM_018418.5(SPATA7):c.1483A>G (p.Ile495Val) rs1284148609 0.00016
NM_018418.5(SPATA7):c.245A>G (p.Asp82Gly) rs376502749 0.00014
NM_018418.5(SPATA7):c.932A>G (p.Tyr311Cys) rs140107720 0.00014
NM_018418.5(SPATA7):c.207G>A (p.Ser69=) rs142913613 0.00011
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val) rs375371982 0.00010
NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala) rs200231959 0.00010
NM_018418.5(SPATA7):c.1067G>A (p.Arg356His) rs151154007 0.00009
NM_018418.5(SPATA7):c.1425G>T (p.Leu475Phe) rs181052380 0.00009
NM_018418.5(SPATA7):c.1622T>C (p.Ile541Thr) rs139510848 0.00009
NM_018418.5(SPATA7):c.343T>A (p.Ser115Thr) rs373779457 0.00008
NM_018418.5(SPATA7):c.1216-4C>T rs755958987 0.00007
NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr) rs143812944 0.00007
NM_018418.5(SPATA7):c.1156A>G (p.Asn386Asp) rs138211483 0.00006
NM_018418.5(SPATA7):c.1403A>G (p.Gln468Arg) rs146142429 0.00006
NM_018418.5(SPATA7):c.1465A>G (p.Thr489Ala) rs372752890 0.00005
NM_018418.5(SPATA7):c.814C>T (p.Arg272Trp) rs139404133 0.00005
NM_018418.5(SPATA7):c.1028+5A>G rs368848333 0.00004
NM_018418.5(SPATA7):c.1571A>G (p.His524Arg) rs1180389700 0.00004
NM_018418.5(SPATA7):c.1711A>G (p.Ser571Gly) rs369285856 0.00004
NM_018418.5(SPATA7):c.206C>T (p.Ser69Leu) rs1416355447 0.00004
NM_018418.5(SPATA7):c.386C>T (p.Pro129Leu) rs374126653 0.00004
NM_018418.5(SPATA7):c.539C>T (p.Pro180Leu) rs777633193 0.00004
NM_018418.5(SPATA7):c.571C>T (p.Arg191Trp) rs768436771 0.00004
NM_018418.5(SPATA7):c.728G>A (p.Arg243His) rs765697401 0.00004
NM_018418.5(SPATA7):c.913-14T>A rs185459765 0.00004
NM_018418.5(SPATA7):c.995T>C (p.Ile332Thr) rs534658921 0.00004
NM_018418.5(SPATA7):c.1225C>T (p.Arg409Cys) rs376584178 0.00003
NM_018418.5(SPATA7):c.190+3A>G rs756285093 0.00003
NM_018418.5(SPATA7):c.373-15A>G rs781587897 0.00003
NM_018418.5(SPATA7):c.553T>C (p.Tyr185His) rs777789357 0.00003
NM_018418.5(SPATA7):c.646G>A (p.Val216Ile) rs747210887 0.00003
NM_018418.5(SPATA7):c.878A>C (p.Lys293Thr) rs1013670094 0.00003
NM_018418.5(SPATA7):c.929C>T (p.Thr310Ile) rs767454994 0.00003
NM_018418.5(SPATA7):c.940A>C (p.Lys314Gln) rs751570128 0.00003
NM_018418.5(SPATA7):c.1228C>G (p.His410Asp) rs987375960 0.00002
NM_018418.5(SPATA7):c.1391G>A (p.Arg464His) rs748143898 0.00002
NM_018418.5(SPATA7):c.1408G>C (p.Ala470Pro) rs375711118 0.00002
NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu) rs750676893 0.00002
NM_018418.5(SPATA7):c.254G>A (p.Arg85Gln) rs199825301 0.00002
NM_018418.5(SPATA7):c.319A>G (p.Met107Val) rs763053429 0.00002
NM_018418.5(SPATA7):c.323G>A (p.Arg108Gln) rs370110205 0.00002
NM_018418.5(SPATA7):c.572G>A (p.Arg191Gln) rs774360285 0.00002
NM_018418.5(SPATA7):c.93T>A (p.Asn31Lys) rs779315409 0.00002
NM_018418.5(SPATA7):c.94+5G>A rs371618316 0.00002
NM_018418.5(SPATA7):c.1003G>A (p.Asp335Asn) rs1383336971 0.00001
NM_018418.5(SPATA7):c.1035G>A (p.Met345Ile) rs764902056 0.00001
NM_018418.5(SPATA7):c.103A>G (p.Thr35Ala) rs368604833 0.00001
NM_018418.5(SPATA7):c.1049T>C (p.Leu350Pro) rs758022550 0.00001
NM_018418.5(SPATA7):c.1087G>A (p.Glu363Lys) rs1375333872 0.00001
NM_018418.5(SPATA7):c.1141C>T (p.Leu381Phe) rs770831381 0.00001
NM_018418.5(SPATA7):c.1180G>A (p.Glu394Lys) rs199649645 0.00001
NM_018418.5(SPATA7):c.1184G>A (p.Arg395Gln) rs202077954 0.00001
NM_018418.5(SPATA7):c.1280C>T (p.Ser427Leu) rs143653250 0.00001
NM_018418.5(SPATA7):c.1427C>T (p.Ser476Leu) rs545998461 0.00001
NM_018418.5(SPATA7):c.1428G>A (p.Ser476=) rs140192398 0.00001
NM_018418.5(SPATA7):c.1447G>A (p.Glu483Lys) rs1322871614 0.00001
NM_018418.5(SPATA7):c.1477A>T (p.Met493Leu) rs1229447697 0.00001
NM_018418.5(SPATA7):c.1513A>G (p.Ile505Val) rs745567483 0.00001
NM_018418.5(SPATA7):c.1679A>C (p.Asn560Thr) rs886050874 0.00001
NM_018418.5(SPATA7):c.1687C>T (p.Pro563Ser) rs748651087 0.00001
NM_018418.5(SPATA7):c.1691C>G (p.Ser564Cys) rs1379615692 0.00001
NM_018418.5(SPATA7):c.1693C>A (p.Gln565Lys) rs149705437 0.00001
NM_018418.5(SPATA7):c.1733A>G (p.His578Arg) rs1487429161 0.00001
NM_018418.5(SPATA7):c.194C>T (p.Ala65Val) rs774821432 0.00001
NM_018418.5(SPATA7):c.196G>A (p.Val66Ile) rs958554500 0.00001
NM_018418.5(SPATA7):c.212C>T (p.Pro71Leu) rs373094088 0.00001
NM_018418.5(SPATA7):c.316G>A (p.Ala106Thr) rs775594191 0.00001
NM_018418.5(SPATA7):c.372+11A>G rs757636745 0.00001
NM_018418.5(SPATA7):c.382G>A (p.Glu128Lys) rs768713530 0.00001
NM_018418.5(SPATA7):c.411A>C (p.Lys137Asn) rs772148541 0.00001
NM_018418.5(SPATA7):c.429T>G (p.Phe143Leu) rs1469531734 0.00001
NM_018418.5(SPATA7):c.472C>A (p.His158Asn) rs1296975092 0.00001
NM_018418.5(SPATA7):c.620T>A (p.Phe207Tyr) rs1177680731 0.00001
NM_018418.5(SPATA7):c.634C>T (p.Arg212Trp) rs753250204 0.00001
NM_018418.5(SPATA7):c.716C>T (p.Pro239Leu) rs760214171 0.00001
NM_018418.5(SPATA7):c.781C>T (p.Pro261Ser) rs771350966 0.00001
NM_018418.5(SPATA7):c.793A>G (p.Lys265Glu) rs553234090 0.00001
NM_018418.5(SPATA7):c.845G>A (p.Ser282Asn) rs752125073 0.00001
NM_018418.5(SPATA7):c.890A>T (p.Asp297Val) rs769211713 0.00001
NM_018418.5(SPATA7):c.913G>A (p.Ala305Thr) rs1281376963 0.00001
NM_018418.5(SPATA7):c.999G>C (p.Lys333Asn) rs771016799 0.00001
NC_000014.8:g.(?_88883035)_(88904766_?)dup
NC_000014.8:g.(?_88903867)_(88904766_?)dup
NC_000014.9:g.(?_88415231)_(88455149_?)dup
NM_018418.5(SPATA7):c.1006G>T (p.Ala336Ser) rs765393196
NM_018418.5(SPATA7):c.1057C>G (p.Pro353Ala)
NM_018418.5(SPATA7):c.1057C>T (p.Pro353Ser)
NM_018418.5(SPATA7):c.1069A>G (p.Lys357Glu) rs1468094515
NM_018418.5(SPATA7):c.1076A>T (p.Tyr359Phe) rs2076931978
NM_018418.5(SPATA7):c.1078T>A (p.Ser360Thr) rs2140009451
NM_018418.5(SPATA7):c.1082+3A>G rs2140009484
NM_018418.5(SPATA7):c.1082+6A>C
NM_018418.5(SPATA7):c.1127A>G (p.Asp376Gly) rs2076985537
NM_018418.5(SPATA7):c.1144G>T (p.Gly382Cys) rs776604824
NM_018418.5(SPATA7):c.1160+5G>T
NM_018418.5(SPATA7):c.1175T>C (p.Leu392Pro) rs2077122465
NM_018418.5(SPATA7):c.1197A>C (p.Gln399His)
NM_018418.5(SPATA7):c.1204C>T (p.His402Tyr) rs2077124089
NM_018418.5(SPATA7):c.1215+3T>A
NM_018418.5(SPATA7):c.1220A>T (p.Lys407Ile) rs886050873
NM_018418.5(SPATA7):c.1226G>A (p.Arg409His)
NM_018418.5(SPATA7):c.1236G>A (p.Leu412=) rs2077132550
NM_018418.5(SPATA7):c.123A>T (p.Arg41Ser)
NM_018418.5(SPATA7):c.1252G>A (p.Asp418Asn)
NM_018418.5(SPATA7):c.1252G>C (p.Asp418His) rs776178227
NM_018418.5(SPATA7):c.1259G>A (p.Gly420Asp) rs1351069069
NM_018418.5(SPATA7):c.1283T>G (p.Val428Gly) rs1203146338
NM_018418.5(SPATA7):c.1327A>G (p.Lys443Glu)
NM_018418.5(SPATA7):c.1330G>A (p.Ala444Thr)
NM_018418.5(SPATA7):c.1360A>G (p.Asn454Asp)
NM_018418.5(SPATA7):c.1453T>C (p.Phe485Leu) rs1566790849
NM_018418.5(SPATA7):c.1468G>A (p.Glu490Lys)
NM_018418.5(SPATA7):c.146A>G (p.Lys49Arg)
NM_018418.5(SPATA7):c.1477A>G (p.Met493Val) rs1229447697
NM_018418.5(SPATA7):c.1485T>G (p.Ile495Met)
NM_018418.5(SPATA7):c.1555A>G (p.Thr519Ala)
NM_018418.5(SPATA7):c.1562A>G (p.Asp521Gly) rs773460135
NM_018418.5(SPATA7):c.157G>A (p.Ala53Thr) rs2139872972
NM_018418.5(SPATA7):c.1598A>G (p.Asp533Gly) rs2140031261
NM_018418.5(SPATA7):c.1611T>C (p.Ser537=) rs1399885444
NM_018418.5(SPATA7):c.1621A>G (p.Ile541Val)
NM_018418.5(SPATA7):c.1622T>A (p.Ile541Asn)
NM_018418.5(SPATA7):c.1627G>A (p.Gly543Ser)
NM_018418.5(SPATA7):c.1630G>C (p.Asp544His) rs779875860
NM_018418.5(SPATA7):c.163C>T (p.His55Tyr) rs764520590
NM_018418.5(SPATA7):c.1648del (p.Val550fs)
NM_018418.5(SPATA7):c.1666T>G (p.Leu556Val)
NM_018418.5(SPATA7):c.1683A>G (p.Thr561=) rs886050875
NM_018418.5(SPATA7):c.1689del (p.Ser564fs) rs2077149352
NM_018418.5(SPATA7):c.1715T>A (p.Val572Asp)
NM_018418.5(SPATA7):c.1719A>T (p.Lys573Asn)
NM_018418.5(SPATA7):c.1723G>T (p.Asp575Tyr) rs551066420
NM_018418.5(SPATA7):c.1730A>G (p.Asn577Ser)
NM_018418.5(SPATA7):c.1750A>G (p.Thr584Ala) rs752698812
NM_018418.5(SPATA7):c.1775T>C (p.Ile592Thr) rs2140031893
NM_018418.5(SPATA7):c.227C>G (p.Thr76Ser)
NM_018418.5(SPATA7):c.238+2dup rs2075874938
NM_018418.5(SPATA7):c.253C>G (p.Arg85Gly) rs140287375
NM_018418.5(SPATA7):c.256A>G (p.Arg86Gly) rs2139961527
NM_018418.5(SPATA7):c.265C>T (p.Leu89Phe)
NM_018418.5(SPATA7):c.296A>T (p.Glu99Val) rs2076489402
NM_018418.5(SPATA7):c.310A>G (p.Lys104Glu) rs200034171
NM_018418.5(SPATA7):c.311A>G (p.Lys104Arg) rs2076490012
NM_018418.5(SPATA7):c.314C>A (p.Thr105Asn) rs769850431
NM_018418.5(SPATA7):c.325G>A (p.Ala109Thr) rs766157792
NM_018418.5(SPATA7):c.34G>A (p.Val12Ile) rs2139866031
NM_018418.5(SPATA7):c.361A>G (p.Thr121Ala)
NM_018418.5(SPATA7):c.371A>G (p.Lys124Arg)
NM_018418.5(SPATA7):c.400G>A (p.Asp134Asn)
NM_018418.5(SPATA7):c.401A>G (p.Asp134Gly) rs2139995438
NM_018418.5(SPATA7):c.409A>G (p.Lys137Glu)
NM_018418.5(SPATA7):c.41C>G (p.Pro14Arg)
NM_018418.5(SPATA7):c.445T>A (p.Ser149Thr) rs2076790068
NM_018418.5(SPATA7):c.449T>C (p.Leu150Pro) rs2076790271
NM_018418.5(SPATA7):c.451G>A (p.Val151Ile)
NM_018418.5(SPATA7):c.470T>C (p.Leu157Pro) rs1053255812
NM_018418.5(SPATA7):c.47A>G (p.Tyr16Cys)
NM_018418.5(SPATA7):c.556G>A (p.Ala186Thr) rs2139996019
NM_018418.5(SPATA7):c.559G>C (p.Ala187Pro) rs143636395
NM_018418.5(SPATA7):c.55C>G (p.Pro19Ala) rs2075741859
NM_018418.5(SPATA7):c.565G>C (p.Gly189Arg) rs905542502
NM_018418.5(SPATA7):c.568C>T (p.Pro190Ser)
NM_018418.5(SPATA7):c.57G>A (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.57G>T (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.605G>A (p.Arg202Lys) rs2076795225
NM_018418.5(SPATA7):c.635G>A (p.Arg212Gln) rs772488728
NM_018418.5(SPATA7):c.654G>T (p.Ser218=) rs1566779741
NM_018418.5(SPATA7):c.661C>T (p.Pro221Ser)
NM_018418.5(SPATA7):c.665G>C (p.Ser222Thr) rs781595295
NM_018418.5(SPATA7):c.670G>T (p.Asp224Tyr)
NM_018418.5(SPATA7):c.745G>A (p.Ala249Thr) rs946409225
NM_018418.5(SPATA7):c.754T>C (p.Phe252Leu) rs2076800643
NM_018418.5(SPATA7):c.756C>G (p.Phe252Leu)
NM_018418.5(SPATA7):c.75C>G (p.His25Gln) rs765968462
NM_018418.5(SPATA7):c.770G>A (p.Arg257His) rs533185075
NM_018418.5(SPATA7):c.770G>C (p.Arg257Pro) rs533185075
NM_018418.5(SPATA7):c.773A>G (p.Tyr258Cys) rs546453565
NM_018418.5(SPATA7):c.788A>G (p.Lys263Arg)
NM_018418.5(SPATA7):c.789A>C (p.Lys263Asn) rs2139996952
NM_018418.5(SPATA7):c.794A>G (p.Lys265Arg)
NM_018418.5(SPATA7):c.808G>T (p.Asp270Tyr) rs923955933
NM_018418.5(SPATA7):c.82A>G (p.Thr28Ala)
NM_018418.5(SPATA7):c.836C>T (p.Thr279Ile)
NM_018418.5(SPATA7):c.854C>A (p.Ser285Tyr) rs2076832785
NM_018418.5(SPATA7):c.891_896del (p.Asp297_Ser298del) rs2076833726
NM_018418.5(SPATA7):c.899T>A (p.Met300Lys) rs1181075236
NM_018418.5(SPATA7):c.89G>A (p.Ser30Asn)
NM_018418.5(SPATA7):c.904A>G (p.Ile302Val) rs774986202
NM_018418.5(SPATA7):c.908A>C (p.Lys303Thr)
NM_018418.5(SPATA7):c.91A>G (p.Asn31Asp)
NM_018418.5(SPATA7):c.935A>G (p.Asp312Gly)
NM_018418.5(SPATA7):c.94+5G>T
NM_018418.5(SPATA7):c.94+6T>G
NM_018418.5(SPATA7):c.940A>G (p.Lys314Glu)
NM_018418.5(SPATA7):c.978_980del (p.Asp326_Ser327delinsGlu) rs2140004363

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