ClinVar Miner

List of variants studied for cataract 13 with adult I phenotype

Included ClinVar conditions (2):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_145649.5(GCNT2):c.926-34546C>G rs539351 0.99662
NM_001491.3(GCNT2):c.216C>T (p.Cys72=) rs2230906 0.10090
NM_001491.3(GCNT2):c.330G>A (p.Arg110=) rs35537333 0.01705
NM_001491.3(GCNT2):c.687T>C (p.Tyr229=) rs35318346 0.00670
NM_001491.3(GCNT2):c.8T>C (p.Leu3Ser) rs75648279 0.00632
NM_145649.5(GCNT2):c.926-34857G>A rs56106312 0.00419
NM_001491.3(GCNT2):c.630T>G (p.Gly210=) rs148372193 0.00167
NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg) rs17637756 0.00101
NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter) rs185805779 0.00023
NM_001491.3(GCNT2):c.60del (p.Ile20fs) rs1184095219 0.00013
NM_145649.5(GCNT2):c.1155C>T (p.Arg385=) rs370574556 0.00013
NM_001491.3(GCNT2):c.741G>A (p.Ala247=) rs200874437 0.00009
NM_001491.3(GCNT2):c.816C>T (p.Ala272=) rs773819612 0.00009
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys) rs148284531 0.00009
NM_145649.5(GCNT2):c.1049G>A (p.Gly350Glu) rs56141211 0.00005
NM_001491.3(GCNT2):c.722A>G (p.Tyr241Cys) rs200427106 0.00004
NM_001491.3(GCNT2):c.517A>G (p.Arg173Gly) rs560637463 0.00003
NM_145649.5(GCNT2):c.1018G>A (p.Gly340Ser) rs568547927 0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu) rs770940749 0.00001
NM_001491.3(GCNT2):c.710_711insT (p.Lys237fs) rs949335475 0.00001
NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys) rs786205577 0.00001
NM_145649.5(GCNT2):c.558T>G (p.Tyr186Ter) rs754060575 0.00001
NC_000006.11:g.(?_10398650)_(10882026_?)dup
NC_000006.11:g.(?_10556657)_(10626840_?)del
NC_000006.12:g.(?_10528892)_(10557362_?)del
NC_000006.12:g.(?_10556404)_(10626627_?)del
NM_001491.2(GCNT2):c.-117_*41del
NM_001491.3(GCNT2):c.259_262del (p.Ser87fs) rs1085307067
NM_001491.3(GCNT2):c.558C>T (p.Ile186=) rs763988372
NM_001491.3(GCNT2):c.572A>G (p.Gln191Arg)
NM_001491.3(GCNT2):c.577T>G (p.Phe193Val) rs1554129925
NM_001491.3(GCNT2):c.671T>C (p.Ile224Thr)
NM_001491.3(GCNT2):c.760del (p.His254fs)
NM_001491.3(GCNT2):c.96C>G (p.Ser32Arg) rs771422892
NM_145649.5(GCNT2):c.1000A>T (p.Arg334Ter) rs2127444957
NM_145649.5(GCNT2):c.1100A>C (p.Lys367Thr) rs1554139314
NM_145649.5(GCNT2):c.1121C>T (p.Pro374Leu)

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