ClinVar Miner

List of variants reported as benign for early-onset partial cataract by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
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_024513.4(FYCO1):c.267C>A (p.Arg89=) rs4682801 0.68219
NM_024513.4(FYCO1):c.962G>C (p.Gly321Ala) rs3733100 0.46235
NM_024513.4(FYCO1):c.2036C>T (p.Ala679Val) rs3796375 0.35386
NM_024513.4(FYCO1):c.289-14T>A rs751552 0.34838
NM_024513.4(FYCO1):c.1335G>A (p.Leu445=) rs3796376 0.15512
NM_024513.4(FYCO1):c.1206G>A (p.Glu402=) rs34147726 0.09577
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_024513.4(FYCO1):c.2980G>A (p.Glu994Lys) rs34801630 0.05424
NM_003380.5(VIM):c.813C>T (p.Asp271=) rs4903 0.05252
NM_024513.4(FYCO1):c.3789A>G (p.Thr1263=) rs41289618 0.02650
NM_024513.4(FYCO1):c.845G>A (p.Arg282His) rs9875356 0.01862
NM_024513.4(FYCO1):c.2179C>A (p.His727Asn) rs36014492 0.01745
NM_003380.5(VIM):c.879C>G (p.Ser293=) rs11254467 0.01153
NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) rs41289620 0.00981
NM_024513.4(FYCO1):c.4146C>T (p.Ala1382=) rs34068905 0.00893
NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp) rs149507450 0.00840
NM_024513.4(FYCO1):c.2294G>A (p.Arg765His) rs34266136 0.00838
NM_003380.5(VIM):c.1009-10C>T rs79719081 0.00570
NM_024513.4(FYCO1):c.2718T>C (p.Ala906=) rs114548859 0.00520
NM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile) rs41289612 0.00446
NM_024513.4(FYCO1):c.4086G>A (p.Glu1362=) rs137986696 0.00410
NM_024513.4(FYCO1):c.4265C>T (p.Thr1422Met) rs35678722 0.00395
NM_024513.4(FYCO1):c.1016G>A (p.Arg339Gln) rs114145679 0.00391
NM_024513.4(FYCO1):c.1325G>A (p.Arg442Gln) rs116404907 0.00390
NM_024513.4(FYCO1):c.630+15G>T rs76456912 0.00389
NM_024513.4(FYCO1):c.3212A>G (p.Gln1071Arg) rs142618914 0.00387
NM_024513.4(FYCO1):c.3234C>A (p.Asp1078Glu) rs6795530 0.00381
NM_024513.4(FYCO1):c.647C>T (p.Ser216Phe) rs140002692 0.00363
NM_024513.4(FYCO1):c.1063C>T (p.Arg355Trp) rs35937665 0.00299
NM_024513.4(FYCO1):c.2806G>A (p.Ala936Thr) rs149818737 0.00295
NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met) rs146711260 0.00271
NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg) rs144182297 0.00266
NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp) rs143704916 0.00265
NM_024513.4(FYCO1):c.2814G>A (p.Glu938=) rs116798205 0.00264
NM_024513.4(FYCO1):c.2612G>A (p.Arg871Gln) rs113517878 0.00200
NM_024513.4(FYCO1):c.4147G>A (p.Glu1383Lys) rs184524046 0.00148
NM_024513.4(FYCO1):c.1142C>T (p.Thr381Met) rs3733101 0.00123
NM_003380.5(VIM):c.282C>T (p.Thr94=) rs144539901 0.00107
NM_003380.5(VIM):c.1008+18A>G rs368836644 0.00103
NM_024513.4(FYCO1):c.3944+18C>G rs144463828 0.00076
NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala) rs117543659 0.00041
NM_024513.4(FYCO1):c.2622G>A (p.Gln874=) rs761900261 0.00029
NM_024513.4(FYCO1):c.186C>T (p.Thr62=) rs147216026 0.00028
NM_024513.4(FYCO1):c.546G>A (p.Thr182=) rs201372127 0.00014
NM_024513.4(FYCO1):c.678C>T (p.Asn226=) rs140730556 0.00014
NM_024513.4(FYCO1):c.2109G>A (p.Gln703=) rs766375149 0.00009
NM_024513.4(FYCO1):c.3705C>A (p.Gly1235=) rs367690473 0.00002
NM_003380.5(VIM):c.99G>T (p.Thr33=) rs531385322 0.00001
NM_003380.5(VIM):c.1360-7del
NM_003380.5(VIM):c.1360-7dup rs750651760
NM_003380.5(VIM):c.720+18C>T rs7096093
NM_003380.5(VIM):c.807G>T (p.Leu269=) rs745874397
NM_024513.4(FYCO1):c.1675C>T (p.Pro559Ser)

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