ClinVar Miner

List of variants studied for cataract by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237 0.00041
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu) rs375878222 0.00012
NM_001379500.1(COL18A1):c.929-2A>G rs765919785 0.00003
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr) rs754982440 0.00003
NM_003380.5(VIM):c.1141C>T (p.Arg381Cys) rs749084801 0.00002
NM_005670.4(EPM2A):c.*1691G>A rs750320097 0.00002
NM_000496.3(CRYBB2):c.472G>A (p.Gly158Ser) rs539443672 0.00001
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr) rs1264081192 0.00001
NM_001374675.1(HSF4):c.1222A>G (p.Thr408Ala) rs760918985 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_000093.5(COL5A1):c.608G>T (p.Gly203Val) rs1554781700
NM_000496.3(CRYBB2):c.24G>C (p.Gln8His) rs1935318753
NM_000496.3(CRYBB2):c.254G>T (p.Trp85Leu) rs1935450863
NM_000539.3(RHO):c.891C>G (p.Ser297Arg) rs142285818
NM_000553.6(WRN):c.724+1G>T rs1339616347
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter) rs1057518802
NM_005360.5(MAF):c.941A>C (p.His314Pro) rs1913779276
NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly) rs766745943
NM_015073.3(SIPA1L3):c.3535T>G (p.Tyr1179Asp) rs1971857507
NM_015073.3(SIPA1L3):c.5248C>T (p.Arg1750Trp) rs1261792226

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