ClinVar Miner

List of variants studied for Leber congenital amaurosis 1 by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 139
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HGVS dbSNP
NC_000017.11:g.(?_8002902)_(8016550_?)del
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1026+6C>T rs147410617
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.1093C>T (p.Arg365Trp) rs138836357
NM_000180.4(GUCY2D):c.1094G>A (p.Arg365Gln)
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424
NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys) rs775105018
NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp)
NM_000180.4(GUCY2D):c.1154C>T (p.Ala385Val)
NM_000180.4(GUCY2D):c.1160T>A (p.Val387Asp) rs755223158
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664
NM_000180.4(GUCY2D):c.1229C>T (p.Ala410Val)
NM_000180.4(GUCY2D):c.1230G>A (p.Ala410=) rs542570988
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678
NM_000180.4(GUCY2D):c.1257G>A (p.Met419Ile)
NM_000180.4(GUCY2D):c.1278C>T (p.Ser426=) rs746671374
NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly)
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
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.1513C>T (p.Leu505=) rs146849545
NM_000180.4(GUCY2D):c.1519G>A (p.Val507Met)
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682
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.1573C>T (p.Gln525Ter)
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)
NM_000180.4(GUCY2D):c.1624G>A (p.Gly542Ser)
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567
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.1724C>T (p.Pro575Leu) rs28743021
NM_000180.4(GUCY2D):c.1763G>A (p.Arg588Gln)
NM_000180.4(GUCY2D):c.1773C>T (p.Asn591=) rs758841128
NM_000180.4(GUCY2D):c.1776G>C (p.Val592=) rs376508683
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.1938C>T (p.Leu646=) rs201196538
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161
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.2034C>T (p.Phe678=) rs776298636
NM_000180.4(GUCY2D):c.206C>G (p.Ser69Cys)
NM_000180.4(GUCY2D):c.2108C>T (p.Ala703Val)
NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=) rs151106252
NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp) rs34331388
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met)
NM_000180.4(GUCY2D):c.2178C>T (p.Ala726=) rs377648185
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)
NM_000180.4(GUCY2D):c.2181C>A (p.Gly727=) rs140628227
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.2302C>T (p.Arg768Trp) rs61750168
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr)
NM_000180.4(GUCY2D):c.2331T>C (p.Pro777=) rs147201985
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) rs1555635668
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs)
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.2512C>T (p.Arg838Cys) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778
NM_000180.4(GUCY2D):c.2576C>T (p.Pro859Leu)
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)
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.2892C>G (p.Arg964=) rs151052136
NM_000180.4(GUCY2D):c.2904G>T (p.Met968Ile)
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu) rs181567056
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg)
NM_000180.4(GUCY2D):c.295G>T (p.Ala99Ser)
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)
NM_000180.4(GUCY2D):c.3014C>T (p.Thr1005Ile)
NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=)
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)
NM_000180.4(GUCY2D):c.306C>G (p.Pro102=) rs540877830
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224
NM_000180.4(GUCY2D):c.3138+6G>T
NM_000180.4(GUCY2D):c.3188A>G (p.Asn1063Ser)
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463
NM_000180.4(GUCY2D):c.3225-10C>T rs200705417
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212
NM_000180.4(GUCY2D):c.3238G>C (p.Gly1080Arg)
NM_000180.4(GUCY2D):c.3246C>T (p.Ser1082=) rs374580575
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp)
NM_000180.4(GUCY2D):c.3292C>T (p.Arg1098Trp)
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys)
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203
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.525G>A (p.Leu175=) rs570251619
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.613C>T (p.Leu205Phe)
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)
NM_000180.4(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610
NM_000180.4(GUCY2D):c.711C>A (p.Pro237=) rs750484873
NM_000180.4(GUCY2D):c.730A>C (p.Met244Leu)
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466
NM_000180.4(GUCY2D):c.752T>C (p.Leu251Pro) rs1243270832
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser)
NM_000180.4(GUCY2D):c.81C>T (p.Pro27=) rs1361790718
NM_000180.4(GUCY2D):c.914del (p.His305fs) rs1598144694
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=) rs148136213
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs)
NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser)

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