ClinVar Miner

List of variants studied for cataract 20 multiple types by Invitae

Included ClinVar conditions (1):
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_017541.4(CRYGS):c.24T>A (p.Ile8=) rs113031838 0.00359
NM_017541.4(CRYGS):c.294C>A (p.Ile98=) rs140421841 0.00198
NM_017541.4(CRYGS):c.306G>A (p.Gly102=) rs114186269 0.00176
NM_017541.4(CRYGS):c.39C>A (p.Asp13Glu) rs147971015 0.00032
NM_017541.4(CRYGS):c.215G>A (p.Arg72His) rs144812537 0.00026
NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly) rs143507827 0.00018
NM_017541.4(CRYGS):c.265-12G>A rs367680173 0.00006
NM_017541.4(CRYGS):c.299A>C (p.Glu100Ala) rs375632598 0.00004
NM_017541.4(CRYGS):c.236G>A (p.Arg79His) rs764969189 0.00003
NM_017541.4(CRYGS):c.62A>G (p.Tyr21Cys) rs1035614113 0.00001
NM_017541.4(CRYGS):c.107G>A (p.Arg36His)
NM_017541.4(CRYGS):c.139T>C (p.Trp47Arg)
NM_017541.4(CRYGS):c.21+6T>C
NM_017541.4(CRYGS):c.224G>A (p.Gly75Asp) rs761628147
NM_017541.4(CRYGS):c.247T>C (p.Cys83Arg) rs1714002505
NM_017541.4(CRYGS):c.248G>A (p.Cys83Tyr) rs1714002434
NM_017541.4(CRYGS):c.253G>A (p.Ala85Thr) rs1553846926
NM_017541.4(CRYGS):c.269G>C (p.Ser90Thr) rs1275239379
NM_017541.4(CRYGS):c.305G>A (p.Gly102Glu)
NM_017541.4(CRYGS):c.32A>G (p.Tyr11Cys) rs143424000
NM_017541.4(CRYGS):c.450C>A (p.Tyr150Ter)
NM_017541.4(CRYGS):c.502C>T (p.Pro168Ser)
NM_017541.4(CRYGS):c.53G>A (p.Gly18Asp)

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