ClinVar Miner

List of variants studied for cataract by Genome-Nilou Lab

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_145649.5(GCNT2):c.926-34546C>G rs539351 0.99662
NM_021954.4(GJA3):c.895C>A (p.Leu299Met) rs968566 0.96584
NM_003571.4(BFSP2):c.572+160A>G rs7644197 0.93297
NM_006891.4(CRYGD):c.*12T>C rs2305429 0.92175
NM_001886.3(CRYBA4):c.171T>C (p.Phe57=) rs5761637 0.88601
NM_006891.4(CRYGD):c.285A>G (p.Arg95=) rs2305430 0.87984
NM_024513.4(FYCO1):c.749G>A (p.Arg250Gln) rs4683158 0.84476
NM_024513.4(FYCO1):c.3924C>T (p.Leu1308=) rs1463680 0.78251
NM_002340.6(LSS):c.1924T>G (p.Leu642Val) rs2254524 0.72214
NM_000496.3(CRYBB2):c.449+9G>A rs4049505 0.71163
NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu) rs796287 0.69716
NM_024513.4(FYCO1):c.267C>A (p.Arg89=) rs4682801 0.68219
NM_005029.4(PITX3):c.285C>T (p.Ile95=) rs2281983 0.66644
NM_003571.4(BFSP2):c.1244+44A>G rs7628499 0.61687
NM_000394.4(CRYAA):c.6C>T (p.Asp2=) rs872331 0.60786
NM_004076.5(CRYBB3):c.-20-13T>C rs2269672 0.60613
NM_006891.4(CRYGD):c.51T>C (p.Tyr17=) rs2242074 0.59825
NM_004076.5(CRYBB3):c.337C>G (p.His113Asp) rs9608378 0.58489
NM_001886.3(CRYBA4):c.159-20A>G rs4276 0.57999
NM_002340.6(LSS):c.784-6C>T rs11701729 0.56553
NM_002340.6(LSS):c.551-6G>C rs2277826 0.53664
NM_014290.3(TDRD7):c.33A>G (p.Leu11=) rs1381532 0.53541
NM_014290.3(TDRD7):c.449T>C (p.Val150Ala) rs2045732 0.53529
NM_015221.4(DNMBP):c.3744A>G (p.Pro1248=) rs2490763 0.52270
NM_015221.4(DNMBP):c.3156+7A>G rs3758394 0.52059
NM_001195.5(BFSP1):c.957-83T>C rs6044850 0.51642
NM_015221.4(DNMBP):c.4320C>T (p.Ser1440=) rs2255901 0.50729
NM_005210.4(CRYGB):c.192T>C (p.Pro64=) rs2854723 0.48090
NM_015221.4(DNMBP):c.1332C>T (p.Pro444=) rs2862923 0.47476
NM_001195.5(BFSP1):c.735+121G>T rs1016211 0.46631
NM_015073.3(SIPA1L3):c.5203-23T>C rs10419131 0.46560
NM_024513.4(FYCO1):c.962G>C (p.Gly321Ala) rs3733100 0.46235
NM_024513.4(FYCO1):c.3438-29C>T rs1532071 0.45750
NM_003571.4(BFSP2):c.1023+31T>C rs2737717 0.43165
NM_002340.6(LSS):c.864G>C (p.Pro288=) rs9980968 0.38541
NM_004431.5(EPHA2):c.987C>T (p.Pro329=) rs2230597 0.37785
NM_024513.4(FYCO1):c.2036C>T (p.Ala679Val) rs3796375 0.35386
NM_024513.4(FYCO1):c.289-14T>A rs751552 0.34838
NM_003380.5(VIM):c.-22G>C rs3758410 0.34400
NM_015221.4(DNMBP):c.2883C>T (p.Asn961=) rs7919323 0.31410
NM_015221.4(DNMBP):c.4239T>G (p.Cys1413Trp) rs11190305 0.30773
NM_001195.5(BFSP1):c.1500G>A (p.Ala500=) rs6136118 0.27904
NM_004431.5(EPHA2):c.573G>A (p.Leu191=) rs6678616 0.27639
NM_001289808.2(CRYAB):c.324+4T>G rs11603779 0.26871
NM_004431.5(EPHA2):c.570G>A (p.Ala190=) rs6678618 0.26138
NM_000496.3(CRYBB2):c.483G>A (p.Gly161=) rs8140949 0.24115
NM_004431.5(EPHA2):c.2874C>T (p.Ile958=) rs3754334 0.23636
NM_001195.5(BFSP1):c.1033G>A (p.Gly345Ser) rs6080719 0.20403
NM_001267052.2(UNC45B):c.808+39G>A rs11869662 0.15718
NM_024513.4(FYCO1):c.1339C>T (p.Arg447Cys) rs33910087 0.08920
NM_024513.4(FYCO1):c.819A>G (p.Gln273=) rs13071283 0.08538
NM_024513.4(FYCO1):c.3001A>G (p.Asn1001Asp) rs13059238 0.08514
NM_024513.4(FYCO1):c.2739C>T (p.Cys913=) rs13079869 0.08069
NM_024513.4(FYCO1):c.3587+15C>T rs13069079 0.08025
NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys) rs13079478 0.07989
NM_004431.5(EPHA2):c.2627G>A (p.Arg876His) rs35903225 0.01759
NM_000496.3(CRYBB2):c.173C>T (p.Pro58Leu) rs763268420 0.00001
NM_001195.5(BFSP1):c.1749A>G (p.Pro583=) rs6080718
NM_001195.5(BFSP1):c.535-42G>A rs1559956
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_002340.6(LSS):c.181-16_181-15del rs10550493
NM_004431.5(EPHA2):c.1428+16G>A
NM_005360.5(MAF):c.-30GGC[7] rs5818251
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) rs1337897299
NM_015073.3(SIPA1L3):c.5203-29G>A rs74573108
NM_018216.4(PANK4):c.1640C>T (p.Ala547Val)
NM_018216.4(PANK4):c.393A>G (p.Lys131=)

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