ClinVar Miner

List of variants studied for cone-rod dystrophy 2 by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660 0.00005
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs) rs1196886096 0.00001
NM_006017.3(PROM1):c.2077-521A>G rs796051882 0.00001
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter) rs1439202144 0.00001
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) rs751644763 0.00001
NM_000283.4(PDE6B):c.222dup (p.Val75fs) rs1734066547
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) rs1800111659
NM_000350.3(ABCA4):c.346_347del (p.Ala116fs) rs1662507319
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del) rs1570367398
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.4269C>T (p.Gly1423=) rs778456901
NM_000350.3(ABCA4):c.639del (p.Phe213fs) rs1662213462
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs) rs1667508280
NM_001042432.2(CLN3):c.1197+2T>A rs2046020472
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) rs2046113301
NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs) rs1827340429
NM_001384910.1(GUCA1A):c.443A>C (p.Asp148Ala) rs1554186472
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006017.3(PROM1):c.2211+1G>A rs1719285721
NM_020366.4(RPGRIP1):c.1612-3C>A rs1594204748
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201
NM_172240.3(POC1B):c.560+2T>G rs1882924778
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201548.5(CERKL):c.1564T>G (p.Tyr522Asp) rs1201433512
NM_201548.5(CERKL):c.541_542delinsTT (p.Glu181Leu) rs1689012192
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557

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.