ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 4 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.323C>T (p.Ala108Val) rs149124329 0.00051
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) rs181630986 0.00007
NM_014336.5(AIPL1):c.562C>T (p.Leu188Phe) rs146153236 0.00006
NM_014336.5(AIPL1):c.658G>A (p.Val220Met) rs751994982 0.00006
NM_014336.5(AIPL1):c.784+4C>T rs375600133 0.00006
NM_014336.5(AIPL1):c.868G>C (p.Val290Leu) rs375624646 0.00006
NM_014336.5(AIPL1):c.1054_1065dup (p.Ala352_Pro355dup) rs776145713 0.00005
NM_014336.5(AIPL1):c.304C>T (p.Arg102Trp) rs151204387 0.00005
NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly) rs745586461 0.00004
NM_014336.5(AIPL1):c.281C>T (p.Thr94Met) rs773203055 0.00004
NM_014336.5(AIPL1):c.466-7G>A rs756948838 0.00004
NM_014336.5(AIPL1):c.538G>A (p.Val180Ile) rs761059176 0.00004
NM_014336.5(AIPL1):c.62C>T (p.Thr21Met) rs376242937 0.00004
NM_014336.5(AIPL1):c.796G>T (p.Ala266Ser) rs200939019 0.00004
NM_014336.5(AIPL1):c.96+18G>A rs756817688 0.00004
NM_014336.5(AIPL1):c.1054G>A (p.Ala352Thr) rs751700711 0.00003
NM_014336.5(AIPL1):c.1081G>C (p.Glu361Gln) rs1278686032 0.00003
NM_014336.5(AIPL1):c.112C>T (p.Arg38Cys) rs200899521 0.00003
NM_014336.5(AIPL1):c.158G>A (p.Arg53Gln) rs756283764 0.00003
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg) rs776024427 0.00003
NM_014336.5(AIPL1):c.382G>A (p.Ala128Thr) rs751216669 0.00003
NM_014336.5(AIPL1):c.113G>A (p.Arg38His) rs759934433 0.00002
NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp) rs62637008 0.00002
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met) rs144579083 0.00002
NM_014336.5(AIPL1):c.392C>T (p.Thr131Met) rs537256728 0.00002
NM_014336.5(AIPL1):c.636G>C (p.Gln212His) rs137891232 0.00002
NM_014336.5(AIPL1):c.642G>A (p.Lys214=) rs747890893 0.00002
NM_014336.5(AIPL1):c.938C>T (p.Ala313Val) rs139900367 0.00002
NM_014336.5(AIPL1):c.1028C>T (p.Pro343Leu) rs778794784 0.00001
NM_014336.5(AIPL1):c.1052C>T (p.Pro351Leu) rs972017329 0.00001
NM_014336.5(AIPL1):c.1058A>G (p.Glu353Gly) rs1452332999 0.00001
NM_014336.5(AIPL1):c.1123C>T (p.Pro375Ser) rs1567634365 0.00001
NM_014336.5(AIPL1):c.1129T>A (p.Ser377Thr) rs757143537 0.00001
NM_014336.5(AIPL1):c.1147C>T (p.Gln383Ter) rs2543874334 0.00001
NM_014336.5(AIPL1):c.131A>T (p.Glu44Val) rs150831974 0.00001
NM_014336.5(AIPL1):c.203A>G (p.Lys68Arg) rs1912903029 0.00001
NM_014336.5(AIPL1):c.208G>A (p.Glu70Lys) rs746661125 0.00001
NM_014336.5(AIPL1):c.221T>C (p.Ile74Thr) rs201336952 0.00001
NM_014336.5(AIPL1):c.227T>C (p.Leu76Pro) rs1375384582 0.00001
NM_014336.5(AIPL1):c.239G>A (p.Arg80Gln) rs781282752 0.00001
NM_014336.5(AIPL1):c.23A>G (p.Asn8Ser) rs1913053614 0.00001
NM_014336.5(AIPL1):c.241G>A (p.Val81Met) rs1329458187 0.00001
NM_014336.5(AIPL1):c.246C>A (p.His82Gln) rs758868216 0.00001
NM_014336.5(AIPL1):c.256G>A (p.Glu86Lys) rs549595673 0.00001
NM_014336.5(AIPL1):c.297C>G (p.Ile99Met) rs145369191 0.00001
NM_014336.5(AIPL1):c.298C>G (p.Leu100Val) rs1223856637 0.00001
NM_014336.5(AIPL1):c.352G>A (p.Val118Met) rs1194123629 0.00001
NM_014336.5(AIPL1):c.358A>G (p.Thr120Ala) rs200049623 0.00001
NM_014336.5(AIPL1):c.454G>A (p.Glu152Lys) rs150886208 0.00001
NM_014336.5(AIPL1):c.46A>G (p.Ile16Val) rs767405804 0.00001
NM_014336.5(AIPL1):c.476C>T (p.Pro159Leu) rs141575827 0.00001
NM_014336.5(AIPL1):c.515A>G (p.His172Arg) rs1285577966 0.00001
NM_014336.5(AIPL1):c.546C>A (p.His182Gln) rs745326012 0.00001
NM_014336.5(AIPL1):c.559C>T (p.Arg187Trp) rs372483880 0.00001
NM_014336.5(AIPL1):c.55G>C (p.Gly19Arg) rs777056827 0.00001
NM_014336.5(AIPL1):c.570G>T (p.Lys190Asn) rs199497823 0.00001
NM_014336.5(AIPL1):c.577C>A (p.Arg193Ser) rs765435117 0.00001
NM_014336.5(AIPL1):c.578G>A (p.Arg193His) rs761923853 0.00001
NM_014336.5(AIPL1):c.615C>G (p.Ile205Met) rs374997186 0.00001
NM_014336.5(AIPL1):c.631C>G (p.Leu211Val) rs748859830 0.00001
NM_014336.5(AIPL1):c.642+3C>T rs1567636943 0.00001
NM_014336.5(AIPL1):c.66C>T (p.Gly22=) rs1454085955 0.00001
NM_014336.5(AIPL1):c.746T>C (p.Val249Ala) rs760491360 0.00001
NM_014336.5(AIPL1):c.772C>G (p.Arg258Gly) rs540875983 0.00001
NM_014336.5(AIPL1):c.784+6C>T rs761471244 0.00001
NM_014336.5(AIPL1):c.828G>C (p.Glu276Asp) rs772357501 0.00001
NM_014336.5(AIPL1):c.917G>A (p.Arg306Lys) rs1307386356 0.00001
NM_014336.5(AIPL1):c.950A>G (p.Glu317Gly) rs754534495 0.00001
NM_014336.5(AIPL1):c.95G>A (p.Arg32Gln) rs1377279163 0.00001
NM_014336.5(AIPL1):c.995C>T (p.Thr332Met) rs770159814 0.00001
NC_000017.10:g.(?_6328780)_(6428803_?)dup
NC_000017.10:g.(?_6338309)_(6338424_?)dup
NM_014336.5(AIPL1):c.1004C>T (p.Pro335Leu) rs863223363
NM_014336.5(AIPL1):c.1005del (p.Ala336fs) rs1356057652
NM_014336.5(AIPL1):c.1006_1017del (p.Ala336_Pro339del) rs753988167
NM_014336.5(AIPL1):c.1024C>T (p.Pro342Ser) rs750182531
NM_014336.5(AIPL1):c.1030G>C (p.Ala344Pro) rs757121467
NM_014336.5(AIPL1):c.1030G>T (p.Ala344Ser) rs757121467
NM_014336.5(AIPL1):c.1036T>C (p.Ser346Pro) rs753854367
NM_014336.5(AIPL1):c.1061C>T (p.Pro354Leu) rs766639726
NM_014336.5(AIPL1):c.1081G>A (p.Glu361Lys) rs1278686032
NM_014336.5(AIPL1):c.1090G>A (p.Ala364Thr) rs201875142
NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser) rs201875142
NM_014336.5(AIPL1):c.1096C>A (p.Pro366Thr) rs1351212825
NM_014336.5(AIPL1):c.1099C>T (p.Pro367Ser) rs1423538169
NM_014336.5(AIPL1):c.1100C>T (p.Pro367Leu) rs1911827159
NM_014336.5(AIPL1):c.1111_1122dup (p.Ala371_Pro374dup) rs760000705
NM_014336.5(AIPL1):c.1123C>A (p.Pro375Thr) rs1567634365
NM_014336.5(AIPL1):c.1132C>T (p.Pro378Ser) rs2543874571
NM_014336.5(AIPL1):c.1135G>C (p.Gly379Arg) rs915044721
NM_014336.5(AIPL1):c.1136G>C (p.Gly379Ala) rs1911819341
NM_014336.5(AIPL1):c.1145T>A (p.Leu382Gln) rs751647463
NM_014336.5(AIPL1):c.119T>A (p.Met40Lys) rs1912918119
NM_014336.5(AIPL1):c.119T>C (p.Met40Thr) rs1912918119
NM_014336.5(AIPL1):c.136C>T (p.Arg46Trp) rs769362312
NM_014336.5(AIPL1):c.137G>A (p.Arg46Gln) rs755639765
NM_014336.5(AIPL1):c.137G>C (p.Arg46Pro) rs755639765
NM_014336.5(AIPL1):c.140C>T (p.Thr47Ile) rs150656720
NM_014336.5(AIPL1):c.146T>C (p.Ile49Thr) rs1172466966
NM_014336.5(AIPL1):c.172C>A (p.Pro58Thr) rs1442681009
NM_014336.5(AIPL1):c.176T>C (p.Met59Thr) rs545384558
NM_014336.5(AIPL1):c.178_179delinsAC (p.His60Thr) rs2543916366
NM_014336.5(AIPL1):c.197T>C (p.Met66Thr) rs1912903681
NM_014336.5(AIPL1):c.20T>G (p.Leu7Arg) rs2543922109
NM_014336.5(AIPL1):c.212T>G (p.Val71Gly) rs2150692149
NM_014336.5(AIPL1):c.246C>G (p.His82Gln) rs758868216
NM_014336.5(AIPL1):c.254C>A (p.Ala85Asp) rs1912891330
NM_014336.5(AIPL1):c.256G>C (p.Glu86Gln)
NM_014336.5(AIPL1):c.268G>A (p.Asp90Asn) rs12449580
NM_014336.5(AIPL1):c.274A>G (p.Ile92Val) rs2150691847
NM_014336.5(AIPL1):c.286G>T (p.Val96Phe) rs62619924
NM_014336.5(AIPL1):c.299T>G (p.Leu100Arg)
NM_014336.5(AIPL1):c.304C>G (p.Arg102Gly) rs151204387
NM_014336.5(AIPL1):c.314G>A (p.Arg105Lys) rs1912230857
NM_014336.5(AIPL1):c.351C>G (p.His117Gln) rs370312709
NM_014336.5(AIPL1):c.356A>G (p.His119Arg) rs1912223301
NM_014336.5(AIPL1):c.381C>A (p.Phe127Leu) rs147264906
NM_014336.5(AIPL1):c.406G>A (p.Asp136Asn) rs2543892689
NM_014336.5(AIPL1):c.412G>C (p.Asp138His) rs1912211534
NM_014336.5(AIPL1):c.465+4G>A rs1447302639
NM_014336.5(AIPL1):c.476C>G (p.Pro159Arg) rs141575827
NM_014336.5(AIPL1):c.519G>C (p.Glu173Asp) rs2543886428
NM_014336.5(AIPL1):c.525G>A (p.Met175Ile) rs933903266
NM_014336.5(AIPL1):c.547G>A (p.Gly183Arg) rs374255033
NM_014336.5(AIPL1):c.577C>T (p.Arg193Cys) rs765435117
NM_014336.5(AIPL1):c.586G>A (p.Glu196Lys) rs2150677659
NM_014336.5(AIPL1):c.593C>T (p.Ser198Phe) rs2150677613
NM_014336.5(AIPL1):c.59G>A (p.Gly20Asp) rs1036750099
NM_014336.5(AIPL1):c.642+20G>A rs778831030
NM_014336.5(AIPL1):c.676_678del (p.Glu226del)
NM_014336.5(AIPL1):c.67G>A (p.Glu23Lys) rs2543921655
NM_014336.5(AIPL1):c.714G>C (p.Gln238His) rs2543883989
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.724AAG[1] (p.Lys243del) rs765411357
NM_014336.5(AIPL1):c.725A>C (p.Lys242Thr) rs1912002011
NM_014336.5(AIPL1):c.730G>C (p.Glu244Gln) rs776498118
NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr) rs886053268
NM_014336.5(AIPL1):c.761G>A (p.Ser254Asn) rs1911992920
NM_014336.5(AIPL1):c.763G>T (p.Asp255Tyr) rs997988313
NM_014336.5(AIPL1):c.772C>T (p.Arg258Trp) rs540875983
NM_014336.5(AIPL1):c.785-1_787del rs1392534956
NM_014336.5(AIPL1):c.797C>T (p.Ala266Val) rs1447545940
NM_014336.5(AIPL1):c.805G>T (p.Val269Leu) rs774143285
NM_014336.5(AIPL1):c.817G>T (p.Ala273Ser) rs1911886614
NM_014336.5(AIPL1):c.884C>G (p.Pro295Arg) rs1911872542
NM_014336.5(AIPL1):c.884C>T (p.Pro295Leu) rs1911872542
NM_014336.5(AIPL1):c.917G>C (p.Arg306Thr) rs1307386356
NM_014336.5(AIPL1):c.920T>C (p.Leu307Pro) rs1458797810
NM_014336.5(AIPL1):c.92C>A (p.Ser31Tyr) rs1458100796
NM_014336.5(AIPL1):c.932G>A (p.Arg311His) rs1342076335
NM_014336.5(AIPL1):c.934A>C (p.Met312Leu) rs2150674520
NM_014336.5(AIPL1):c.937G>A (p.Ala313Thr) rs115681466
NM_014336.5(AIPL1):c.958C>T (p.Arg320Trp) rs1445697118
NM_014336.5(AIPL1):c.95G>C (p.Arg32Pro) rs1377279163
NM_014336.5(AIPL1):c.965G>C (p.Arg322Pro) rs537788083
NM_014336.5(AIPL1):c.97-10C>G rs758429483
NM_014336.5(AIPL1):c.97G>C (p.Val33Leu) rs1201292222
NM_014336.5(AIPL1):c.983G>C (p.Ser328Thr) rs1361890271
NM_014336.5(AIPL1):c.98T>G (p.Val33Gly) rs16955859

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