ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 3 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_018418.5(SPATA7):c.1160G>A (p.Arg387Lys) rs868032740 0.00005
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) rs140287375 0.00005
NM_018418.5(SPATA7):c.1373del (p.Val458fs) rs753697847 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_018418.5(SPATA7):c.1161-1G>C rs779101498 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_018418.5(SPATA7):c.19+2T>A rs866837129 0.00001
NC_000014.8:g.(?_88852143)_(88904786_?)del
NC_000014.8:g.(?_88852163)_(88862567_?)del
NC_000014.8:g.(?_88852163)_(88904766_?)del
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs) rs878853385
NM_018418.5(SPATA7):c.1079_1080del (p.Tyr359_Ser360insTer)
NM_018418.5(SPATA7):c.1090G>T (p.Glu364Ter)
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) rs777069665
NM_018418.5(SPATA7):c.115_119del (p.Ser39fs) rs1555370458
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) rs374268850
NM_018418.5(SPATA7):c.1195C>T (p.Gln399Ter) rs2077123571
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs) rs1436269510
NM_018418.5(SPATA7):c.1200_1201del (p.Asn400fs) rs2077123914
NM_018418.5(SPATA7):c.1210G>T (p.Glu404Ter) rs749304751
NM_018418.5(SPATA7):c.1222del (p.Met408fs)
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs) rs777346333
NM_018418.5(SPATA7):c.418dup (p.Met140fs) rs2139995462
NM_018418.5(SPATA7):c.477_478del (p.Leu161fs)
NM_018418.5(SPATA7):c.578_581dup (p.Ser195fs)
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) rs567890014
NM_018418.5(SPATA7):c.700dup (p.Ser234fs) rs567890014
NM_018418.5(SPATA7):c.864del (p.Thr289fs)
NM_018418.5(SPATA7):c.960dup (p.Pro321fs) rs386834241
NM_018418.5(SPATA7):c.969_975del (p.Gly324fs) rs2140004287

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