ClinVar Miner

List of variants reported as not provided for retinal disorder by GeneReviews

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250 0.00006
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926 0.00005
NM_000390.4(CHM):c.1609+2dup rs386833676 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_000096.4(CP):c.2962G>A (p.Gly988Ser) rs386134133
NM_000096.4(CP):c.2991T>G (p.His997Gln) rs34394958
NM_000390.4(CHM):c.116+1G>T rs786204761
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter) rs1556277815
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs) rs386834253
NM_001164688.2(RD3):c.296+1G>A rs386834260
NM_001377295.2(GNAT2):c.461+24G>A rs397515384
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter) rs121912931
NM_001852.4(COL9A2):c.843_846+4del rs606231376
NM_004385.5(VCAN):c.4004-1G>A rs80356554
NM_004385.5(VCAN):c.4004-1G>C rs80356554
NM_004385.5(VCAN):c.4004-1G>T rs80356554
NM_004385.5(VCAN):c.4004-2A>G rs80356555
NM_004385.5(VCAN):c.4004-2A>T rs80356555
NM_004385.5(VCAN):c.4004-5T>A rs80356556
NM_004385.5(VCAN):c.4004-5T>C rs80356556
NM_004385.5(VCAN):c.4004-6T>A rs864309744
NM_004385.5(VCAN):c.9265+1G>A rs80356553
NM_004385.5(VCAN):c.9265+1G>T rs80356553
NM_004385.5(VCAN):c.9265+2T>A rs397515437
NM_007348.4(ATF6):c.1533+1G>C rs797045172
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) rs62637010
NM_014336.5(AIPL1):c.617T>A (p.Ile206Asn) rs62637011
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_018418.5(SPATA7):c.1395del (p.Gln465fs) rs386834243
NM_018418.5(SPATA7):c.960dup (p.Pro321fs) rs386834241
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.