ClinVar Miner

List of variants reported as likely pathogenic for cataract by Invitae

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001374675.1(HSF4):c.1255-2A>G rs1456161420 0.00002
NM_145649.5(GCNT2):c.1018G>A (p.Gly340Ser) rs568547927 0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NC_000007.13:g.(?_141292926)_(141293005_?)dup
NM_000394.4(CRYAA):c.440del (p.Gln147fs) rs1114167311
NM_000496.3(CRYBB2):c.161T>G (p.Val54Gly) rs1555888762
NM_000496.3(CRYBB2):c.446G>T (p.Gly149Val) rs1935496594
NM_000496.3(CRYBB2):c.551T>G (p.Val184Gly) rs1555889308
NM_001195.5(BFSP1):c.215T>C (p.Leu72Pro) rs2123536475
NM_001374675.1(HSF4):c.352C>T (p.Arg118Trp) rs1567668570
NM_001886.3(CRYBA4):c.198_200del (p.Gln66_Tyr67delinsHis) rs1929675709
NM_001887.4(CRYBB1):c.698G>A (p.Arg233His)
NM_004076.5(CRYBB3):c.392T>G (p.Ile131Arg)
NM_004431.5(EPHA2):c.1582+1G>A rs1570403798
NM_005208.5(CRYBA1):c.530_538del (p.Arg177_Tyr179del) rs1555547008
NM_005267.5(GJA8):c.137G>A (p.Gly46Glu)
NM_005267.5(GJA8):c.197A>C (p.Tyr66Ser) rs1651881222
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly) rs2149015482
NM_005267.5(GJA8):c.263C>G (p.Pro88Arg)
NM_005267.5(GJA8):c.64G>T (p.Gly22Cys)
NM_005360.5(MAF):c.185C>T (p.Thr62Met) rs727502771
NM_005360.5(MAF):c.905C>T (p.Ala302Val) rs1481963503
NM_012064.4(MIP):c.525+1G>A rs1868687508
NM_018238.4(AGK):c.1047-2A>T rs886041491
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)
NM_018238.4(AGK):c.519-1G>A
NM_018238.4(AGK):c.519-2A>G
NM_020989.4(CRYGC):c.411_417delinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA (p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer)
NM_020989.4(CRYGC):c.418dup (p.Arg140fs) rs2105857887
NM_021954.4(GJA3):c.151G>C (p.Asp51His) rs2141138391
NM_021954.4(GJA3):c.178G>A (p.Gly60Ser) rs2141138370
NM_021954.4(GJA3):c.196T>C (p.Tyr66His)
NM_021954.4(GJA3):c.226C>T (p.Arg76Cys) rs1566515310
NM_176812.5(CHMP4B):c.200A>G (p.Gln67Arg)

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.