ClinVar Miner

List of variants studied for cataract by MGZ Medical Genetics Center

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys) rs397515623 0.00003
NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp) rs1555165555 0.00001
NM_004076.5(CRYBB3):c.116G>T (p.Cys39Phe) rs1232309133 0.00001
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000496.3(CRYBB2):c.359AGA[1] (p.Lys121del)
NM_001374675.1(HSF4):c.965dup (p.Pro323fs) rs776129797
NM_004431.5(EPHA2):c.2677_2680dup (p.Arg894fs)
NM_005208.5(CRYBA1):c.590_591del (p.Glu197fs) rs786205628
NM_005267.5(GJA8):c.189C>G (p.Asn63Lys)
NM_005360.5(MAF):c.899G>A (p.Gly300Asp)
NM_020989.4(CRYGC):c.403G>A (p.Glu135Lys)
NM_024513.4(FYCO1):c.265_267delinsTGA (p.Arg89Ter)

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.