ClinVar Miner

List of variants studied for Leber congenital amaurosis by OMIM

Included ClinVar conditions (50):
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ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) rs121912553 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) rs371526758 0.00012
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794 0.00005
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) rs140287375 0.00005
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) rs137852833 0.00002
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) rs886037840 0.00001
NM_001346022.3(USP45):c.935G>A (p.Arg312Gln) rs202240410 0.00001
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) rs786205550 0.00001
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) rs121909076 0.00001
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) rs121909077 0.00001
NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val) rs387907293 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp) rs387907291 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000350.3(ABCA4):c.1225del (p.Arg409fs) rs387906387
NM_000554.6(CRX):c.503_504del (p.Glu168fs) rs61748446
NM_000554.6(CRX):c.520del (p.Ala174fs) rs281865515
NM_000554.6(CRX):c.650del (p.Gly217fs) rs281865517
NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys) rs121912554
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_001164688.2(RD3):c.112C>T (p.Arg38Ter) rs786205148
NM_001164688.2(RD3):c.136G>T (p.Glu46Ter) rs786205150
NM_001164688.2(RD3):c.137_138del (p.Glu46fs) rs786205149
NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter) rs762631020
NM_001164688.2(RD3):c.296+1G>A rs386834260
NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter) rs869320631
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.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.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs) rs1581734819
NM_003322.6(TULP1):c.1582_1587dup (p.Ala529_Ile530insPheAla) rs2150921548
NM_003322.6(TULP1):c.718+2T>C rs1581742970
NM_003322.6(TULP1):c.99+1G>A rs281865166
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.1010_1011del (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_018418.5(SPATA7):c.265_268del (p.Leu89fs) rs777346333
NM_018418.5(SPATA7):c.960dup (p.Pro321fs) rs386834241
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.4(RPGRIP1):c.3609del (p.Gln1204fs) rs61751271
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala) rs986437232
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) rs387907294
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys) rs1271498710
NM_022787.4(NMNAT1):c.299+526_*968dup
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) rs387907292
NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser) rs1405020783
NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu) rs368062092
NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln) rs387907290
NM_025114.4(CEP290):c.1260_1264del (p.Lys421fs) rs2137919146
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
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.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.688C>G (p.Pro230Ala) rs104894476
NM_152443.3(RDH12):c.778del (p.Glu260fs) rs527236099
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_181714.4(LCA5):c.0_-298+211del
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter) rs137853136
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
SPATA7, 3-BP DEL, 1227CAC

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