ClinVar Miner

List of variants studied for Leber congenital amaurosis by OMIM

Included ClinVar conditions (39):
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ClinVar version:
Total variants: 109
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HGVS dbSNP
CEP290, 4-BP DEL, 384TAGA
CEP290, 5-BP DEL, 1260TAAAG
CRX, 1-BP DEL, GLY217
CRX, 2-BP DEL, GLU168
GUCY2D, 1-BP DEL, 2943G
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.3(GUCY2D):c.620delC (p.Arg208Glyfs) rs61749671
NM_000180.3:c.1633C>T
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673
NM_000554.6(CRX):c.520del (p.Ala174fs) rs281865515
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) rs121912553
NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys) rs121912554
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352
NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp) rs1401531865
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs) rs386834253
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) rs886037840
NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter) rs869320631
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) rs786205550
NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter) rs387906858
NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro) rs143607153
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) rs121909076
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) rs387906836
NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter) rs387906835
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) rs121909073
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys) rs121909075
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) rs121909077
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)
NM_003322.6(TULP1):c.718+2T>C
NM_004744.5(LRAT):c.217_218del (p.Met73fs) rs1560870755
NM_004744.5(LRAT):c.400_401del (p.Lys134fs) rs761717462
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) rs104893848
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) rs1554786803
NM_014336.5(AIPL1):c.1008_1009AG[1] (p.Glu337fs) rs62637016
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925
NM_018418.5(SPATA7):c.1395del (p.Gln465fs) rs386834243
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) rs140287375
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281
NM_018418.5(SPATA7):c.960dup (p.Pro321fs) rs386834241
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) rs387907294
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) rs387907292
NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val) rs387907293
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) rs371526758
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179
NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu) rs368062092
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp) rs387907291
NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln) rs387907290
NM_025114.3(CEP290):c.2249T>G (p.Leu750Ter) rs137852833
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.451C>A (p.His151Asn) rs104894475
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337
NM_152443.3(RDH12):c.523T>C (p.Ser175Pro) rs104894472
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) rs104894470
NM_152443.3(RDH12):c.658+1G>A rs387906272
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala) rs104894476
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_181714.4(LCA5):c.0_-298+211del
NM_183059.2(RD3):c.112C>T (p.Arg38Ter) rs786205148
NM_183059.2(RD3):c.136G>T (p.Glu46Ter) rs786205150
NM_183059.2(RD3):c.137_138del (p.Glu46fs) rs786205149
NM_183059.2(RD3):c.180C>A (p.Tyr60Ter) rs762631020
NM_183059.2(RD3):c.296+1G>A rs386834260
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter) rs137853136
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
RDH12, 1-BP DEL, 776G
RPGRIP1, 1-BP DEL, ASP1176
RPGRIP1, 1-BP DEL, LYS342
RPGRIP1, 1-BP INS, GLN893
RPGRIP1, 3-BP DEL, 3835GAG
SPATA7, 3-BP DEL, 1227CAC
SPATA7, 4-BP DEL, 265CTCA
TULP1, 6-BP DUP, NT1593
TULP1, IVS14DS, G-A, +1
TULP1, IVS2DS, G-A, +1

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