ClinVar Miner

List of variants reported as uncertain significance for cataract 18 by Invitae

Included ClinVar conditions (1):
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_024513.4(FYCO1):c.4394C>T (p.Thr1465Met) rs201764993 0.00038
NM_024513.4(FYCO1):c.452T>C (p.Val151Ala) rs142081868 0.00035
NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) rs150498691 0.00031
NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp) rs141828619 0.00029
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323 0.00019
NM_024513.4(FYCO1):c.3824C>T (p.Pro1275Leu) rs377677067 0.00012
NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser) rs372021321 0.00010
NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys) rs72889997 0.00009
NM_024513.4(FYCO1):c.3572G>A (p.Arg1191Gln) rs755500518 0.00007
NM_024513.4(FYCO1):c.4104T>G (p.Phe1368Leu) rs377256529 0.00007
NM_024513.4(FYCO1):c.2966C>T (p.Ala989Val) rs142098311 0.00006
NM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp) rs745338967 0.00004
NM_024513.4(FYCO1):c.3662G>A (p.Arg1221His) rs375376263 0.00004
NM_024513.4(FYCO1):c.4418A>G (p.Asp1473Gly) rs778635228 0.00004
NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg) rs751793566 0.00003
NM_024513.4(FYCO1):c.4081G>A (p.Gly1361Arg) rs149020169 0.00003
NM_024513.4(FYCO1):c.1357G>A (p.Ala453Thr) rs752338309 0.00001
NM_024513.4(FYCO1):c.241G>A (p.Val81Met) rs1167055520 0.00001
NM_024513.4(FYCO1):c.3574C>T (p.Arg1192Trp) rs1346321563 0.00001
NM_024513.4(FYCO1):c.3599G>A (p.Arg1200His) rs775657304 0.00001
NM_024513.4(FYCO1):c.4219G>A (p.Glu1407Lys) rs776739152 0.00001
NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile) rs150218695 0.00001
NM_024513.4(FYCO1):c.854C>T (p.Ala285Val) rs762929660 0.00001
NM_024513.4(FYCO1):c.1051C>G (p.Leu351Val) rs2125852762
NM_024513.4(FYCO1):c.1171C>T (p.Pro391Ser) rs533418314
NM_024513.4(FYCO1):c.1213G>C (p.Glu405Gln)
NM_024513.4(FYCO1):c.1535C>G (p.Thr512Ser)
NM_024513.4(FYCO1):c.217T>C (p.Tyr73His) rs762153899
NM_024513.4(FYCO1):c.280A>G (p.Ile94Val) rs755356775
NM_024513.4(FYCO1):c.2864A>G (p.Gln955Arg)
NM_024513.4(FYCO1):c.3286G>A (p.Glu1096Lys)
NM_024513.4(FYCO1):c.3367A>G (p.Met1123Val)
NM_024513.4(FYCO1):c.364C>G (p.Gln122Glu) rs779617235
NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe) rs1705246252
NM_024513.4(FYCO1):c.396T>C (p.Ser132=)
NM_024513.4(FYCO1):c.4176CTC[1] (p.Ser1394del)
NM_024513.4(FYCO1):c.425T>C (p.Leu142Pro)
NM_024513.4(FYCO1):c.4280C>T (p.Ser1427Phe) rs2125787935
NM_024513.4(FYCO1):c.4324G>A (p.Gly1442Ser)
NM_024513.4(FYCO1):c.4362-2A>G
NM_024513.4(FYCO1):c.44G>C (p.Arg15Pro)
NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu) rs1460800228
NM_024513.4(FYCO1):c.590G>T (p.Arg197Leu)

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