ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by GeneReviews

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs) rs386834239
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs) rs386834253
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) rs62637010
NM_014336.5(AIPL1):c.617T>A (p.Ile206Asn) rs62637011
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925
NM_018418.5(SPATA7):c.1395del (p.Gln465fs) rs386834243
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281
NM_018418.5(SPATA7):c.960dup (p.Pro321fs) rs386834241
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_181714.4(LCA5):c.0_-298+211del
NM_183059.2(RD3):c.296+1G>A rs386834260
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748

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