ClinVar Miner

List of variants studied for cataract by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174 0.00017
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys) rs148284531 0.00009
NM_003571.4(BFSP2):c.13C>T (p.Arg5Ter) rs1224719314 0.00004
NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys) rs786205577 0.00001
NM_000448.3(RAG1):c.1618G>A (p.Gly540Arg) rs1590703267
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_001887.4(CRYBB1):c.2T>A (p.Met1Lys)
NM_002340.6(LSS):c.1317+1G>T
NM_003571.4(BFSP2):c.598_599insGGC (p.Lys200delinsArgGln)
NM_004431.5(EPHA2):c.1405T>C (p.Tyr469His)
NM_004431.5(EPHA2):c.2476G>T (p.Val826Leu)
NM_005208.5(CRYBA1):c.500+1G>C rs775038545
NM_005267.5(GJA8):c.1273C>T (p.Arg425Ter)
NM_005267.5(GJA8):c.191T>C (p.Val64Ala)
NM_005267.5(GJA8):c.460C>G (p.His154Asp)
NM_006891.4(CRYGD):c.173T>G (p.Leu58Arg)
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_021954.4(GJA3):c.175C>G (p.Pro59Ala)

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