ClinVar Miner

List of variants reported as likely pathogenic for congenital vitreoretinal dysplasia

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676 0.00026
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025099.6(CTC1):c.1360del (p.Glu454fs) rs748852501 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys) rs765695793 0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) rs1270099780 0.00001
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) rs1398692057 0.00001
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln) rs779935967 0.00001
NM_022167.4(XYLT2):c.2548G>A (p.Asp850Asn) rs1423415130 0.00001
NM_025099.6(CTC1):c.1818+1G>A rs773716148 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_000266.4(NDP):c.109C>T (p.Arg37Ter) rs398123283
NM_000266.4(NDP):c.131_132del (p.Tyr44fs)
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000266.4(NDP):c.242T>C (p.Phe81Ser) rs2147204801
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000266.4(NDP):c.307C>G (p.Leu103Val)
NM_000266.4(NDP):c.355A>C (p.Thr119Pro) rs2147204677
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_001099857.5(IKBKG):c.363_367del (p.Leu122fs)
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln) rs2153153067
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu) rs1158745675
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) rs886040977
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) rs1057519574
NM_002335.4(LRP5):c.2371A>G (p.Met791Val)
NM_002335.4(LRP5):c.3028-1G>A
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) rs1326459816
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_016580.4(PCDH12):c.2008G>T (p.Glu670Ter) rs531630376
NM_018191.4(RCBTB1):c.1172+1G>A rs869312819
NM_018191.4(RCBTB1):c.707del (p.Asn236fs) rs777630688
NM_022167.4(XYLT2):c.1552del (p.Leu518fs) rs1912543391
NM_022167.4(XYLT2):c.1584del (p.Gly529fs)
NM_022167.4(XYLT2):c.1584dup (p.Gly529fs) rs779864368
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs) rs773120259
NM_025099.6(CTC1):c.131_134del (p.Asp44fs) rs1250113146
NM_025099.6(CTC1):c.1A>C (p.Met1Leu) rs779499831
NM_025099.6(CTC1):c.2176del (p.His726fs)
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2831dup (p.His945fs) rs199473677
NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer) rs1567599993
NM_025099.6(CTC1):c.2T>A (p.Met1Lys) rs1299853886
NM_025099.6(CTC1):c.3221+1G>A rs766644829
NM_025099.6(CTC1):c.798_802del (p.Gln268fs)
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_145178.4(ATOH7):c.154C>G (p.Arg52Gly)

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.