ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis by Invitae

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 183
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HGVS dbSNP
NC_000001.11:g.(?_9972074)_(9981247_?)dup
NC_000001.11:g.(?_9981031)_(9982701_?)dup
NC_000014.9:g.(?_21287977)_(21288061_?)dup
NC_000014.9:g.(?_21327623)_(21330387_?)del
NC_000014.9:g.(?_88415231)_(88455149_?)dup
NC_000019.10:g.(?_47801775)_(47886257_?)del
NC_000019.10:g.(?_47818438)_(47886257_?)del
NC_000019.10:g.(?_47834444)_(47836394_?)del
NC_000019.10:g.(?_47839300)_(47839987_?)del
NC_000019.10:g.(?_47839320)_(47839967_?)del
NM_000180.4(GUCY2D):c.1080C>T (p.Gly360=)
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met)
NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp)
NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser)
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315
NM_000180.4(GUCY2D):c.1566+4G>A
NM_000180.4(GUCY2D):c.1660G>A (p.Val554Ile)
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756
NM_000180.4(GUCY2D):c.1817G>A (p.Gly606Asp)
NM_000180.4(GUCY2D):c.1870C>T (p.Arg624Trp)
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.2171C>T (p.Thr724Met)
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)
NM_000180.4(GUCY2D):c.2224C>T (p.Arg742Cys)
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp)
NM_000180.4(GUCY2D):c.2431G>A (p.Gly811Ser)
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.2830C>G (p.Arg944Gly)
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu)
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg)
NM_000180.4(GUCY2D):c.3014C>T (p.Thr1005Ile)
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys)
NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu)
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)
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser)
NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser)
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp)
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser)
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile)
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys)
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
NM_000329.3(RPE65):c.1322A>G (p.His441Arg)
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser)
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg)
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.268G>A (p.Val90Ile)
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu)
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.751G>A (p.Val251Ile)
NM_000554.6(CRX):c.100+3_100+5delinsTTA rs1064796109
NM_000554.6(CRX):c.118C>T (p.Arg40Trp)
NM_000554.6(CRX):c.464C>T (p.Thr155Met)
NM_000554.6(CRX):c.491G>A (p.Ser164Asn)
NM_000554.6(CRX):c.594_606del (p.Ser199fs)
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.766C>T (p.Gln256Ter)
NM_000554.6(CRX):c.8C>T (p.Ala3Val)
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly)
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427
NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro)
NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser)
NM_001001557.4(GDF6):c.27G>A (p.Ser9=)
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro)
NM_001001557.4(GDF6):c.460A>G (p.Met154Val)
NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu)
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)
NM_014336.5(AIPL1):c.1030G>C (p.Ala344Pro)
NM_014336.5(AIPL1):c.1036T>C (p.Ser346Pro)
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107
NM_014336.5(AIPL1):c.1111_1122dup (p.Ala371_Pro374dup)
NM_014336.5(AIPL1):c.1145T>A (p.Leu382Gln)
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.323C>T (p.Ala108Val)
NM_014336.5(AIPL1):c.382G>A (p.Ala128Thr)
NM_014336.5(AIPL1):c.559C>T (p.Arg187Trp)
NM_014336.5(AIPL1):c.578G>A (p.Arg193His)
NM_014336.5(AIPL1):c.615C>G (p.Ile205Met)
NM_014336.5(AIPL1):c.62C>T (p.Thr21Met)
NM_014336.5(AIPL1):c.631C>G (p.Leu211Val)
NM_014336.5(AIPL1):c.643-5G>A
NM_014336.5(AIPL1):c.746T>C (p.Val249Ala)
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val) rs375371982
NM_018418.5(SPATA7):c.1067G>A (p.Arg356His)
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) rs150364664
NM_018418.5(SPATA7):c.1483A>G (p.Ile495Val)
NM_018418.5(SPATA7):c.1687C>T (p.Pro563Ser)
NM_018418.5(SPATA7):c.1689del (p.Ser564fs)
NM_018418.5(SPATA7):c.1722C>T (p.Gly574=)
NM_018418.5(SPATA7):c.254G>A (p.Arg85Gln)
NM_018418.5(SPATA7):c.283_284delinsAG (p.Gln95Arg)
NM_018418.5(SPATA7):c.343T>A (p.Ser115Thr)
NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile) rs202230167
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)
NM_018418.5(SPATA7):c.449T>C (p.Leu150Pro)
NM_018418.5(SPATA7):c.553T>C (p.Tyr185His)
NM_018418.5(SPATA7):c.781C>T (p.Pro261Ser)
NM_018418.5(SPATA7):c.932A>G (p.Tyr311Cys)
NM_020366.3(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691
NM_020366.3(RPGRIP1):c.128G>A (p.Arg43Gln)
NM_020366.3(RPGRIP1):c.1306+3A>G
NM_020366.3(RPGRIP1):c.163G>A (p.Glu55Lys)
NM_020366.3(RPGRIP1):c.1726G>A (p.Glu576Lys)
NM_020366.3(RPGRIP1):c.173T>C (p.Met58Thr)
NM_020366.3(RPGRIP1):c.1761T>C (p.Ser587=)
NM_020366.3(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360
NM_020366.3(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966
NM_020366.3(RPGRIP1):c.2466A>G (p.Pro822=)
NM_020366.3(RPGRIP1):c.2507C>A (p.Thr836Asn)
NM_020366.3(RPGRIP1):c.2512A>G (p.Ile838Val)
NM_020366.3(RPGRIP1):c.2930C>T (p.Ala977Val)
NM_020366.3(RPGRIP1):c.3358A>C (p.Ile1120Leu)
NM_020366.3(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911
NM_020366.3(RPGRIP1):c.3364A>G (p.Ile1122Val)
NM_020366.3(RPGRIP1):c.3461C>G (p.Ser1154Trp)
NM_020366.3(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634
NM_020366.3(RPGRIP1):c.3766C>G (p.Leu1256Val) rs1405508889
NM_020366.3(RPGRIP1):c.386A>T (p.His129Leu)
NM_020366.3(RPGRIP1):c.437G>A (p.Gly146Glu)
NM_020366.3(RPGRIP1):c.491-3T>C
NM_020366.3(RPGRIP1):c.636G>A (p.Met212Ile)
NM_020366.3(RPGRIP1):c.787G>T (p.Ala263Ser)
NM_020366.3(RPGRIP1):c.874A>G (p.Met292Val)
NM_020366.3(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533
NM_022787.4(NMNAT1):c.837A>G (p.Thr279=)
NM_152443.3(RDH12):c.203T>C (p.Ile68Thr)
NM_152443.3(RDH12):c.301G>A (p.Asp101Asn)
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) rs150812168
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn)
NM_152443.3(RDH12):c.578G>A (p.Arg193His)
NM_152443.3(RDH12):c.608G>C (p.Ser203Thr)
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)
NM_152443.3(RDH12):c.749T>C (p.Leu250Pro)
NM_152443.3(RDH12):c.771G>A (p.Thr257=)
NM_152443.3(RDH12):c.794G>C (p.Ser265Thr)
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) rs61740289
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_183059.2(RD3):c.202C>T (p.Arg68Trp) rs144697496
NM_183059.2(RD3):c.259A>G (p.Lys87Glu) rs200585050
NM_183059.3(RD3):c.283C>T (p.Pro95Ser)
NM_183059.3(RD3):c.297G>A (p.Arg99=)
NM_183059.3(RD3):c.386T>A (p.Met129Lys)
NM_183059.3(RD3):c.473G>T (p.Arg158Leu)
NM_183059.3(RD3):c.94G>C (p.Glu32Gln)
NM_201253.3(CRB1):c.1086A>T (p.Gln362His)
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) rs751691851
NM_201253.3(CRB1):c.1305A>T (p.Gly435=)
NM_201253.3(CRB1):c.1783G>T (p.Ala595Ser)
NM_201253.3(CRB1):c.2054G>T (p.Gly685Val)
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu)
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
NM_201253.3(CRB1):c.2306G>C (p.Arg769Pro)
NM_201253.3(CRB1):c.2380C>A (p.His794Asn) rs1294237377
NM_201253.3(CRB1):c.2405C>T (p.Pro802Leu) rs1558132026
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile)
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg)
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu)
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn)
NM_201253.3(CRB1):c.308G>T (p.Ser103Ile)
NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys)
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His)
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys)
NM_201253.3(CRB1):c.4001T>C (p.Val1334Ala)
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His)
NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro)
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) rs1064797126
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys)
NM_201253.3(CRB1):c.697T>C (p.Cys233Arg)
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu)
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg)

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