ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 189
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HGVS dbSNP
NM_000180.4(GUCY2D):c.104G>T (p.Arg35Leu)
NM_000180.4(GUCY2D):c.1080C>T (p.Gly360=)
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met)
NM_000180.4(GUCY2D):c.1094G>A (p.Arg365Gln)
NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp)
NM_000180.4(GUCY2D):c.1154C>T (p.Ala385Val)
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664
NM_000180.4(GUCY2D):c.1220C>A (p.Thr407Lys)
NM_000180.4(GUCY2D):c.1229C>T (p.Ala410Val)
NM_000180.4(GUCY2D):c.1257G>A (p.Met419Ile)
NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly)
NM_000180.4(GUCY2D):c.13G>A (p.Ala5Thr)
NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser)
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315
NM_000180.4(GUCY2D):c.1519G>A (p.Val507Met)
NM_000180.4(GUCY2D):c.1544C>T (p.Pro515Leu)
NM_000180.4(GUCY2D):c.1556C>T (p.Thr519Ile)
NM_000180.4(GUCY2D):c.1566+4G>A
NM_000180.4(GUCY2D):c.1624G>A (p.Gly542Ser)
NM_000180.4(GUCY2D):c.1660G>A (p.Val554Ile)
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756
NM_000180.4(GUCY2D):c.1763G>A (p.Arg588Gln)
NM_000180.4(GUCY2D):c.1817G>A (p.Gly606Asp)
NM_000180.4(GUCY2D):c.1825G>A (p.Ala609Thr)
NM_000180.4(GUCY2D):c.1841A>G (p.Asn614Ser)
NM_000180.4(GUCY2D):c.1870C>T (p.Arg624Trp)
NM_000180.4(GUCY2D):c.1871G>A (p.Arg624Gln)
NM_000180.4(GUCY2D):c.1904A>G (p.Glu635Gly)
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met)
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp)
NM_000180.4(GUCY2D):c.206C>G (p.Ser69Cys)
NM_000180.4(GUCY2D):c.2108C>T (p.Ala703Val)
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met)
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)
NM_000180.4(GUCY2D):c.2204T>C (p.Ile735Thr)
NM_000180.4(GUCY2D):c.2224C>T (p.Arg742Cys)
NM_000180.4(GUCY2D):c.2260G>A (p.Glu754Lys)
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp)
NM_000180.4(GUCY2D):c.2290C>T (p.Pro764Ser)
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr)
NM_000180.4(GUCY2D):c.2431G>A (p.Gly811Ser) rs1196292120
NM_000180.4(GUCY2D):c.2434C>G (p.Arg812Gly)
NM_000180.4(GUCY2D):c.2480A>G (p.Tyr827Cys)
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174
NM_000180.4(GUCY2D):c.2576C>T (p.Pro859Leu)
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys) rs1001538483
NM_000180.4(GUCY2D):c.276C>T (p.Gly92=)
NM_000180.4(GUCY2D):c.2830C>G (p.Arg944Gly)
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu)
NM_000180.4(GUCY2D):c.2904G>T (p.Met968Ile)
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg)
NM_000180.4(GUCY2D):c.295G>T (p.Ala99Ser)
NM_000180.4(GUCY2D):c.2978del (p.Met993fs) rs1598151437
NM_000180.4(GUCY2D):c.3014C>T (p.Thr1005Ile)
NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=)
NM_000180.4(GUCY2D):c.3138+6G>T
NM_000180.4(GUCY2D):c.3188A>G (p.Asn1063Ser)
NM_000180.4(GUCY2D):c.3238G>C (p.Gly1080Arg)
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp)
NM_000180.4(GUCY2D):c.3292C>T (p.Arg1098Trp)
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys)
NM_000180.4(GUCY2D):c.431G>T (p.Gly144Val)
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg)
NM_000180.4(GUCY2D):c.520G>A (p.Ala174Thr)
NM_000180.4(GUCY2D):c.569C>G (p.Pro190Arg)
NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu)
NM_000180.4(GUCY2D):c.595C>A (p.Arg199Ser)
NM_000180.4(GUCY2D):c.595C>T (p.Arg199Cys)
NM_000180.4(GUCY2D):c.596G>C (p.Arg199Pro)
NM_000180.4(GUCY2D):c.613C>T (p.Leu205Phe)
NM_000180.4(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610
NM_000180.4(GUCY2D):c.730A>C (p.Met244Leu)
NM_000180.4(GUCY2D):c.752T>C (p.Leu251Pro) rs1243270832
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser)
NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser)
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.1243+10T>C rs548537552
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756dup rs60558029
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His) rs1584727989
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001077182.3(FSCN2):c.72del (p.Thr25fs) rs376633374
NM_001122769.3(LCA5):c.*22dup rs767286706
NM_001122769.3(LCA5):c.*35del rs747368961
NM_001122769.3(LCA5):c.-251G>A rs886061793
NM_001164688.1(RD3):c.-166_-165GA[1] rs886045903
NM_001164688.1(RD3):c.-336_-335AC[16] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[19] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[20] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[21] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[23] rs34485370
NM_001164688.1(RD3):c.-336_-335AC[24] rs34485370
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) rs886037840
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser) rs587783025
NM_002242.4(KCNJ13):c.*1482_*1484del rs774385692
NM_002242.4(KCNJ13):c.*1742dup rs746052279
NM_002242.4(KCNJ13):c.*179_*180CT[1] rs758195599
NM_002335.4(LRP5):c.1697G>A (p.Arg566His) rs587783024
NM_002899.5(RBP1):c.387_400del (p.Lys131fs) rs587783020
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562
NM_004744.5(LRAT):c.*1585T>G rs886059168
NM_004744.5(LRAT):c.*2418G>A rs886059170
NM_004744.5(LRAT):c.*2453C>A rs886059171
NM_004744.5(LRAT):c.*2463T>C rs530211304
NM_004744.5(LRAT):c.*2467C>G rs886059172
NM_004744.5(LRAT):c.*2477_*2479del rs769393659
NM_004744.5(LRAT):c.*2529C>T rs185391295
NM_004744.5(LRAT):c.*2625A>G rs77071498
NM_004744.5(LRAT):c.*2741_*2743dup rs528370871
NM_004744.5(LRAT):c.*298_*301del rs886059162
NM_004744.5(LRAT):c.*313del rs146990234
NM_004744.5(LRAT):c.*3264G>A rs115053323
NM_004744.5(LRAT):c.*3435A>C rs886059176
NM_004744.5(LRAT):c.*3459dup rs369562633
NM_004744.5(LRAT):c.*3712G>C rs144961748
NM_004744.5(LRAT):c.*3729del rs886059177
NM_004744.5(LRAT):c.*3819T>C rs191600425
NM_004744.5(LRAT):c.*3T>G rs200942685
NM_004744.5(LRAT):c.*549T>C rs886059165
NM_004744.5(LRAT):c.*640T>C rs574458445
NM_004744.5(LRAT):c.*98C>T rs529360609
NM_004744.5(LRAT):c.-115C>G rs886059159
NM_004744.5(LRAT):c.-2+7A>C rs886059161
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) rs775838916
NM_004744.5(LRAT):c.258G>A (p.Gly86=) rs768389044
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) rs1035206645
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) rs139819099
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs) rs1554519422
NM_007123.5(USH2A):c.2135del (p.Asn711_Ser712insTer) rs1238314101
NM_014336.4(AIPL1):c.-21A>G rs373772674
NM_014336.4(AIPL1):c.-52G>T rs377376064
NM_014336.4(AIPL1):c.-73A>G rs751249166
NM_014336.5(AIPL1):c.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*150_*151insCAA rs200523461
NM_014336.5(AIPL1):c.*151_*152dup rs77115868
NM_014336.5(AIPL1):c.*153_*154del rs886053263
NM_014336.5(AIPL1):c.*153_*155del rs886053262
NM_014336.5(AIPL1):c.*153del rs886053264
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*887_*891CAAAA[2] rs375369909
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.730_732GAG[1] (p.Glu245del) rs1200311161
NM_014989.5(RIMS1):c.3139del (p.Thr1047fs) rs587783021
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) rs1600361737
NM_020366.3(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141
NM_020366.3(RPGRIP1):c.3748+17dup rs578107768
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro) rs587783022
NM_153638.3(PANK2):c.1283G>A (p.Cys428Tyr) rs1012947103
NM_183059.2(RD3):c.*1305del rs886045896
NM_183059.2(RD3):c.*1582del rs879756831
NM_183059.2(RD3):c.*1582dup rs879756831
NM_183059.2(RD3):c.*1583del rs775682217
NM_183059.2(RD3):c.-295_-294del rs1553282313
NM_183059.2(RD3):c.-296_-295dup rs1491560139
NM_183059.2(RD3):c.-305_-297delinsC rs886045910
NM_183059.2(RD3):c.-307_-297delinsC rs886045911
NM_183059.2(RD3):c.-340_-339del rs886045915
NM_183059.2(RD3):c.-343_-340del rs886045916
NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val) rs1567453873
NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp) rs143681049
NM_201253.3(CRB1):c.*331_*337dup rs886045790
NM_201253.3(CRB1):c.1172-15T>A rs375141011
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly) rs1571645627
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14473C>T (p.His4825Tyr) rs1158010100
NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
NM_206933.3(USH2A):c.7061G>A (p.Arg2354His) rs201386640
NM_206933.4(USH2A):c.4758+3A>G rs117798425

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