ClinVar Miner

List of variants studied for cataract 18 by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_024513.4(FYCO1):c.1016G>A (p.Arg339Gln)
NM_024513.4(FYCO1):c.1063C>T (p.Arg355Trp) rs35937665
NM_024513.4(FYCO1):c.108G>A (p.Thr36=) rs558777911
NM_024513.4(FYCO1):c.1142C>T (p.Thr381Met) rs3733101
NM_024513.4(FYCO1):c.1206G>A (p.Glu402=) rs34147726
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=) rs149643762
NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys) rs72889997
NM_024513.4(FYCO1):c.1325G>A (p.Arg442Gln) rs116404907
NM_024513.4(FYCO1):c.1335G>A (p.Leu445=) rs3796376
NM_024513.4(FYCO1):c.1339C>T (p.Arg447Cys) rs33910087
NM_024513.4(FYCO1):c.1357G>A (p.Ala453Thr)
NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp) rs143704916
NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp) rs141828619
NM_024513.4(FYCO1):c.1659C>T (p.Leu553=) rs746026639
NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp) rs149507450
NM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp) rs745338967
NM_024513.4(FYCO1):c.186C>T (p.Thr62=) rs147216026
NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe) rs150785981
NM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn) rs141155944
NM_024513.4(FYCO1):c.2036C>T (p.Ala679Val) rs3796375
NM_024513.4(FYCO1):c.2179C>A (p.His727Asn) rs36014492
NM_024513.4(FYCO1):c.2199C>T (p.Leu733=)
NM_024513.4(FYCO1):c.2294G>A (p.Arg765His) rs34266136
NM_024513.4(FYCO1):c.241G>A (p.Val81Met) rs1167055520
NM_024513.4(FYCO1):c.2505del (p.Ala836fs) rs1575369255
NM_024513.4(FYCO1):c.2612G>A (p.Arg871Gln)
NM_024513.4(FYCO1):c.267C>A (p.Arg89=) rs4682801
NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg) rs751793566
NM_024513.4(FYCO1):c.2718T>C (p.Ala906=) rs114548859
NM_024513.4(FYCO1):c.2739C>T (p.Cys913=) rs13079869
NM_024513.4(FYCO1):c.2806G>A (p.Ala936Thr) rs149818737
NM_024513.4(FYCO1):c.280A>G (p.Ile94Val) rs755356775
NM_024513.4(FYCO1):c.2814G>A (p.Glu938=) rs116798205
NM_024513.4(FYCO1):c.2844G>A (p.Glu948=) rs182162227
NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) rs150498691
NM_024513.4(FYCO1):c.2865G>A (p.Gln955=) rs1575368474
NM_024513.4(FYCO1):c.2966C>T (p.Ala989Val)
NM_024513.4(FYCO1):c.2980G>A (p.Glu994Lys) rs34801630
NM_024513.4(FYCO1):c.3001A>G (p.Asn1001Asp) rs13059238
NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys) rs13079478
NM_024513.4(FYCO1):c.3212A>G (p.Gln1071Arg)
NM_024513.4(FYCO1):c.3215C>T (p.Ala1072Val)
NM_024513.4(FYCO1):c.3234C>A (p.Asp1078Glu) rs6795530
NM_024513.4(FYCO1):c.3322A>G (p.Lys1108Glu) rs73830668
NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln) rs41289620
NM_024513.4(FYCO1):c.3438-9_3438-8del
NM_024513.4(FYCO1):c.3572G>A (p.Arg1191Gln)
NM_024513.4(FYCO1):c.3599G>A (p.Arg1200His)
NM_024513.4(FYCO1):c.3662G>A (p.Arg1221His)
NM_024513.4(FYCO1):c.3789A>G (p.Thr1263=) rs41289618
NM_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu)
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) rs748985200
NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe)
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=) rs144525738
NM_024513.4(FYCO1):c.3924C>T (p.Leu1308=) rs1463680
NM_024513.4(FYCO1):c.4086G>A (p.Glu1362=) rs137986696
NM_024513.4(FYCO1):c.4146C>T (p.Ala1382=) rs34068905
NM_024513.4(FYCO1):c.4147G>A (p.Glu1383Lys) rs184524046
NM_024513.4(FYCO1):c.4219G>A (p.Glu1407Lys)
NM_024513.4(FYCO1):c.4254C>A (p.Val1418=) rs1553620269
NM_024513.4(FYCO1):c.4265C>T (p.Thr1422Met) rs35678722
NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser) rs372021321
NM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile) rs41289612
NM_024513.4(FYCO1):c.4362-2A>G
NM_024513.4(FYCO1):c.4418A>G (p.Asp1473Gly)
NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu) rs1460800228
NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile) rs150218695
NM_024513.4(FYCO1):c.647C>T (p.Ser216Phe) rs140002692
NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala) rs117543659
NM_024513.4(FYCO1):c.749G>A (p.Arg250Gln) rs4683158
NM_024513.4(FYCO1):c.753G>T (p.Glu251Asp) rs3821885
NM_024513.4(FYCO1):c.819A>G (p.Gln273=) rs13071283
NM_024513.4(FYCO1):c.845G>A (p.Arg282His) rs9875356
NM_024513.4(FYCO1):c.854C>T (p.Ala285Val) rs762929660
NM_024513.4(FYCO1):c.962G>C (p.Gly321Ala) rs3733100

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