ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_000180.3(GUCY2D):c.1119G>A (p.Val373=) rs56034424
NM_000180.3(GUCY2D):c.2577G>T (p.Pro859=) rs112372281
NM_000180.3(GUCY2D):c.3044-7G>T rs56348143
NM_000180.3(GUCY2D):c.3225-7C>T rs79887212
NM_000180.3(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1338+20A>C rs12564647
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000554.5(CRX):c.-116T>C rs10418215
NM_000554.6(CRX):c.*1122G>C rs73576710
NM_000554.6(CRX):c.*1346G>A rs12462534
NM_000554.6(CRX):c.*1455T>A rs10418834
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*2106C>T rs12982537
NM_000554.6(CRX):c.*2171C>T rs77875912
NM_000554.6(CRX):c.*2183T>C rs7259671
NM_000554.6(CRX):c.*2559G>C rs12463238
NM_000554.6(CRX):c.*2704C>T rs12974951
NM_000554.6(CRX):c.*2717G>T rs11666203
NM_000554.6(CRX):c.*2937T>C rs7248427
NM_000554.6(CRX):c.*3017C>T rs11666244
NM_000554.6(CRX):c.*308_*310AAG[2] rs398059782
NM_000554.6(CRX):c.*3238G>A rs4081725
NM_000554.6(CRX):c.*3279C>T rs11666316
NM_000554.6(CRX):c.*3301T>C rs11670620
NM_000554.6(CRX):c.*400A>T rs3848536
NM_000554.6(CRX):c.*401A>C rs3848537
NM_000554.6(CRX):c.*579T>C rs4356586
NM_000554.6(CRX):c.*591G>C rs3859430
NM_000554.6(CRX):c.*682C>T rs3859431
NM_000554.6(CRX):c.*769G>A rs55835533
NM_000554.6(CRX):c.*966G>C rs3933489
NM_000554.6(CRX):c.100+12C>T rs62128766
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809
NM_001122769.3(LCA5):c.-62A>G rs2803195
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655
NM_003322.6(TULP1):c.*318T>G rs1051952
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) rs7764472
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851
NM_018418.5(SPATA7):c.1255T>C (p.Leu419=) rs112976233
NM_020366.3(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974
NM_020366.3(RPGRIP1):c.2292G>A (p.Ala764=) rs35207255
NM_020366.3(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879
NM_020366.3(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926
NM_020366.3(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_020366.3(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.3574-9delT rs10717563
NM_025114.3(CEP290):c.6522+12dupT rs11405846
NM_025114.3(CEP290):c.853-12_853-11insG rs71082425
NM_183059.2(RD3):c.-204_-203insC rs11463656
NM_183059.2(RD3):c.584A>T (p.Asp195Val) rs143207434
NM_201253.3(CRB1):c.*28T>C rs41302107
NM_201253.3(CRB1):c.1410= (p.Leu470=) rs3902057
NM_201253.3(CRB1):c.2128+15A>C rs75691013
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.3(CRB1):c.2677-8C>T rs73071678
NM_201253.3(CRB1):c.71-12A>T rs12042179
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602

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