ClinVar Miner

List of variants studied for Leber congenital amaurosis 1 by Mendelics

Included ClinVar conditions (8):
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318 0.84569
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655 0.84544
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845 0.36167
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln) rs1313593155 0.00003
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter) rs773968778 0.00003
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) rs1178243254 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly) rs527236079 0.00001
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674 0.00001
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val) rs1424348888
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly) rs61750172
NM_000554.6(CRX):c.480_481del (p.Ser161fs) rs1599991538
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_003322.6(TULP1):c.1388del (p.Asn463fs) rs1581736024
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) rs1035206645
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) rs1578860322
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs) rs1571523319
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) rs1571524102
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser) rs1571525145
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs) rs1571848132
NM_201253.3(CRB1):c.281_282del (p.Phe94fs) rs1571848166
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr) rs1571848190
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del) rs1571848216
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe) rs1571848855
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) rs1571878277

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