ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Genetics in Ophthalmology,Institut Imagine

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ClinVar version:
Total variants: 142
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HGVS dbSNP
NM_000086.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676
NM_000180.4(GUCY2D):c.1211T>C (p.Leu404Pro)
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp)
NM_000180.4(GUCY2D):c.1924T>G (p.Phe642Val)
NM_000180.4(GUCY2D):c.1943T>C (p.Leu648Pro)
NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp)
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu)
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu)
NM_000180.4(GUCY2D):c.2338T>C (p.Cys780Arg)
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171
NM_000180.4(GUCY2D):c.2393T>G (p.Met798Arg)
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro)
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670
NM_000180.4(GUCY2D):c.2627T>C (p.Phe876Ser)
NM_000180.4(GUCY2D):c.2660T>G (p.Val887Gly)
NM_000180.4(GUCY2D):c.2783G>C (p.Gly928Ala)
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro) rs61750179
NM_000180.4(GUCY2D):c.2836G>A (p.Ala946Thr)
NM_000180.4(GUCY2D):c.2836G>T (p.Ala946Ser)
NM_000180.4(GUCY2D):c.2848G>A (p.Ala950Thr)
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val) rs61750181
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2939A>T (p.His980Leu)
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu) rs61750188
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)
NM_000180.4(GUCY2D):c.3043+4A>T rs61750189
NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro)
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668
NM_000180.4(GUCY2D):c.3163T>G (p.Trp1055Gly)
NM_000180.4(GUCY2D):c.3224+3G>T
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys) rs63340060
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup) rs63749076
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly)
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg)
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu)
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674
NM_000310.4(PPT1):c.733G>A (p.Gly245Arg)
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu)
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) rs61752873
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
NM_000329.3(RPE65):c.407T>G (p.Val136Gly)
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp) rs61752882
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883
NM_000329.3(RPE65):c.544C>A (p.His182Asn) rs61752884
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808
NM_000329.3(RPE65):c.770T>G (p.Val257Gly)
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_001122769.3(LCA5):c.1545dup (p.Glu516fs)
NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly)
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)
NM_001256789.3(CACNA1F):c.818-820del
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) rs1464167194
NM_001298.3(CNGA3):c.1286T>C (p.Val429Ala)
NM_001298.3(CNGA3):c.1579C>A (p.Leu527Met)
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr)
NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile)
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)
NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys)
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln)
NM_003322.6(TULP1):c.1522C>T (p.Arg508Cys)
NM_003322.6(TULP1):c.1612A>G (p.Lys538Glu)
NM_004744.5(LRAT):c.149T>G (p.Val50Gly)
NM_004744.5(LRAT):c.299G>A (p.Gly100Asp)
NM_004744.5(LRAT):c.481T>C (p.Cys161Arg)
NM_004744.5(LRAT):c.487C>T (p.His163Tyr)
NM_007348.4(ATF6):c.854A>G (p.Lys285Arg)
NM_007348.4(ATF6):c.950G>A (p.Arg317Gln)
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro)
NM_020366.3(RPGRIP1):c.2237G>A (p.Gly746Glu) rs61751268
NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg)
NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg)
NM_022787.4(NMNAT1):c.-57+10C>T
NM_022787.4(NMNAT1):c.-57+4A>G
NM_022787.4(NMNAT1):c.-57G>T
NM_022787.4(NMNAT1):c.-72G>A
NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg)
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)
NM_022787.4(NMNAT1):c.238G>A (p.Val80Met)
NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe)
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)
NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro)
NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro)
NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile)
NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly)
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met)
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys)
NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser)
NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn)
NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe)
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro)
NM_152443.3(RDH12):c.238G>C (p.Ala80Pro)
NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys)
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln)
NM_152443.3(RDH12):c.805G>C (p.Ala269Pro)
NM_152443.3(RDH12):c.932T>C (p.Leu311Pro)
NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr)
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe)
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.3(CRB1):c.2234C>G (p.Thr745Arg)
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro)
NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala)
NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg)
NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp)
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter) rs759662695
NM_201253.3(CRB1):c.2842+5G>A rs773914330
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile) rs62636274
NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu)
NM_201253.3(CRB1):c.3308G>T (p.Gly1103Val)
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr)
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser) rs62635649
NM_201253.3(CRB1):c.3999_4005+4delinsAAAGGAGAGC
NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr)
NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn)
NM_201253.3(CRB1):c.4085C>A (p.Ala1362Asp)
NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg)
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)
NM_201253.3(CRB1):c.974G>A (p.Cys325Tyr)

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