ClinVar Miner

List of variants in gene SPATA7 reported as likely benign for Leber congenital amaurosis

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_018418.5(SPATA7):c.366A>T (p.Leu122Phe) rs150093878 0.00223
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) rs34682727 0.00218
NM_018418.5(SPATA7):c.923G>A (p.Cys308Tyr) rs138190453 0.00201
NM_018418.5(SPATA7):c.1238A>G (p.His413Arg) rs149478294 0.00196
NM_018418.5(SPATA7):c.653C>T (p.Ser218Leu) rs74072095 0.00087
NM_018418.5(SPATA7):c.1083-17T>C rs377494268 0.00047
NM_018418.5(SPATA7):c.757C>T (p.Leu253=) rs138993523 0.00036
NM_018418.5(SPATA7):c.1020C>T (p.Ser340=) rs554535580 0.00014
NM_018418.5(SPATA7):c.1290A>G (p.Gln430=) rs1018954437 0.00013
NM_018418.5(SPATA7):c.834G>A (p.Gln278=) rs149878757 0.00011
NM_018418.5(SPATA7):c.1216-4C>T rs755958987 0.00007
NM_018418.5(SPATA7):c.1161-9C>T rs370330394 0.00006
NM_018418.5(SPATA7):c.1216-19C>T rs368168750 0.00006
NM_018418.5(SPATA7):c.1179C>T (p.Phe393=) rs747253370 0.00005
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=) rs766017194 0.00005
NM_018418.5(SPATA7):c.1722C>T (p.Gly574=) rs763938332 0.00005
NM_018418.5(SPATA7):c.846-6T>C rs185259226 0.00005
NM_018418.5(SPATA7):c.1216-20T>G rs758562273 0.00004
NM_018418.5(SPATA7):c.1269G>A (p.Ser423=) rs149387181 0.00004
NM_018418.5(SPATA7):c.1314A>G (p.Val438=) rs751808667 0.00004
NM_018418.5(SPATA7):c.1215+14T>C rs761025747 0.00003
NM_018418.5(SPATA7):c.20-12T>C rs747232274 0.00003
NM_018418.5(SPATA7):c.20-18_20-17insC rs760038568 0.00003
NM_018418.5(SPATA7):c.373-12G>A rs367578557 0.00003
NM_018418.5(SPATA7):c.534C>G (p.Ser178=) rs755523674 0.00003
NM_018418.5(SPATA7):c.540G>A (p.Pro180=) rs140956264 0.00003
NM_018418.5(SPATA7):c.762A>G (p.Ser254=) rs372013193 0.00002
NM_018418.5(SPATA7):c.94+8A>G rs758877108 0.00002
NM_018418.5(SPATA7):c.1266A>G (p.Thr422=) rs370543925 0.00001
NM_018418.5(SPATA7):c.1281G>A (p.Ser427=) rs867885753 0.00001
NM_018418.5(SPATA7):c.1467T>C (p.Thr489=) rs374743640 0.00001
NM_018418.5(SPATA7):c.1788T>G (p.Pro596=) rs1325875445 0.00001
NM_018418.5(SPATA7):c.20-9T>C rs2075740665 0.00001
NM_018418.5(SPATA7):c.243A>G (p.Ala81=) rs767275913 0.00001
NM_018418.5(SPATA7):c.252A>G (p.Gln84=) rs910123180 0.00001
NM_018418.5(SPATA7):c.372+11A>G rs757636745 0.00001
NM_018418.5(SPATA7):c.372+7T>G rs746642029 0.00001
NM_018418.5(SPATA7):c.447A>T (p.Ser149=) rs200315779 0.00001
NM_018418.5(SPATA7):c.618A>G (p.Thr206=) rs576385745 0.00001
NM_018418.5(SPATA7):c.723T>C (p.Thr241=) rs538508060 0.00001
NM_018418.5(SPATA7):c.912+10A>G rs1336505648 0.00001
NM_018418.5(SPATA7):c.912+8G>A rs766569562 0.00001
NM_018418.5(SPATA7):c.913-15T>G rs760745265 0.00001
NM_018418.5(SPATA7):c.930A>G (p.Thr310=) rs757065019 0.00001
NM_018418.5(SPATA7):c.102C>T (p.Cys34=)
NM_018418.5(SPATA7):c.1083-10_1083-7del rs768837602
NM_018418.5(SPATA7):c.1093C>T (p.Leu365=)
NM_018418.5(SPATA7):c.1155A>C (p.Ser385=) rs1290349206
NM_018418.5(SPATA7):c.1160+18T>C
NM_018418.5(SPATA7):c.1161-16T>C
NM_018418.5(SPATA7):c.1212G>A (p.Glu404=)
NM_018418.5(SPATA7):c.1215+12C>T
NM_018418.5(SPATA7):c.1215+7C>T
NM_018418.5(SPATA7):c.1216-4del
NM_018418.5(SPATA7):c.1245G>C (p.Leu415=)
NM_018418.5(SPATA7):c.1266A>C (p.Thr422=) rs370543925
NM_018418.5(SPATA7):c.1266A>T (p.Thr422=) rs370543925
NM_018418.5(SPATA7):c.1269G>T (p.Ser423=) rs149387181
NM_018418.5(SPATA7):c.1275A>G (p.Glu425=)
NM_018418.5(SPATA7):c.1284A>G (p.Val428=)
NM_018418.5(SPATA7):c.1308G>A (p.Leu436=)
NM_018418.5(SPATA7):c.1425G>A (p.Leu475=)
NM_018418.5(SPATA7):c.1545T>G (p.Leu515=)
NM_018418.5(SPATA7):c.1605A>G (p.Glu535=) rs2140031318
NM_018418.5(SPATA7):c.1632T>C (p.Asp544=)
NM_018418.5(SPATA7):c.1710C>T (p.Ser570=)
NM_018418.5(SPATA7):c.1737C>T (p.Asp579=)
NM_018418.5(SPATA7):c.177C>T (p.Ile59=) rs767674908
NM_018418.5(SPATA7):c.190+11G>A
NM_018418.5(SPATA7):c.190+12C>A
NM_018418.5(SPATA7):c.190+14A>G
NM_018418.5(SPATA7):c.191-14C>T
NM_018418.5(SPATA7):c.20-8G>T rs1226872703
NM_018418.5(SPATA7):c.219C>T (p.Ser73=)
NM_018418.5(SPATA7):c.238+7A>G rs2139883698
NM_018418.5(SPATA7):c.239-14G>T rs759599766
NM_018418.5(SPATA7):c.239-19G>T
NM_018418.5(SPATA7):c.283_284delinsAG (p.Gln95Arg) rs2076488953
NM_018418.5(SPATA7):c.322C>A (p.Arg108=)
NM_018418.5(SPATA7):c.345C>G (p.Ser115=) rs754923626
NM_018418.5(SPATA7):c.36C>G (p.Val12=) rs770383492
NM_018418.5(SPATA7):c.373-6T>G
NM_018418.5(SPATA7):c.390A>G (p.Gln130=) rs2076788755
NM_018418.5(SPATA7):c.448C>T (p.Leu150=)
NM_018418.5(SPATA7):c.471A>G (p.Leu157=) rs2139995675
NM_018418.5(SPATA7):c.507A>G (p.Thr169=)
NM_018418.5(SPATA7):c.510T>C (p.Asn170=)
NM_018418.5(SPATA7):c.516T>C (p.Pro172=)
NM_018418.5(SPATA7):c.516T>G (p.Pro172=) rs143546398
NM_018418.5(SPATA7):c.564C>T (p.Ser188=)
NM_018418.5(SPATA7):c.567G>A (p.Gly189=)
NM_018418.5(SPATA7):c.570C>G (p.Pro190=) rs762950683
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.597T>C (p.Tyr199=)
NM_018418.5(SPATA7):c.61C>T (p.Leu21=) rs760263752
NM_018418.5(SPATA7):c.630C>T (p.Ser210=) rs1227165374
NM_018418.5(SPATA7):c.654G>A (p.Ser218=)
NM_018418.5(SPATA7):c.660A>G (p.Ala220=)
NM_018418.5(SPATA7):c.777T>C (p.Tyr259=)
NM_018418.5(SPATA7):c.831C>A (p.Thr277=) rs1309684881
NM_018418.5(SPATA7):c.837T>G (p.Thr279=)
NM_018418.5(SPATA7):c.845+9C>T
NM_018418.5(SPATA7):c.915A>T (p.Ala305=) rs2140003993
NM_018418.5(SPATA7):c.94+19A>G
NM_018418.5(SPATA7):c.94+6dup rs2139866339
NM_018418.5(SPATA7):c.95-19A>G rs2139872562
NM_018418.5(SPATA7):c.954T>C (p.Ala318=) rs2140004195

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