ClinVar Miner

List of variants reported as pathogenic for cone-rod dystrophy 2 by Sharon lab, Hadassah-Hebrew University Medical Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_000350.3(ABCA4):c.5312+1G>A rs886044750 0.00001
NM_003816.3(ADAM9):c.1455C>A (p.Tyr485Ter) rs1588391640 0.00001
NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter) rs137853041 0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter) rs761991624 0.00001
NC_000012.12:g.1839550_1875411del
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4895dup (p.Asn1632fs) rs1571257937
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter) rs398123044
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001256789.3(CACNA1F):c.1015-2A>G rs1602653110
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_001330691.3(CEP78):c.534del (p.Lys179fs) rs1057517695
NM_001330691.3(CEP78):c.893-1G>A rs1057517694
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter) rs1588865728
NM_003816.3(ADAM9):c.411-8A>G rs786205086
NM_006017.3(PROM1):c.2281-20_2281-11del rs886037881
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter) rs1589306127
NM_033100.4(CDHR1):c.1485+2T>G rs767366723

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.