ClinVar Miner

List of variants reported as likely benign for Cataract 18 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_024513.4(FYCO1):c.869G>A (p.Arg290His) rs146311777 0.00269
NM_024513.4(FYCO1):c.3322A>G (p.Lys1108Glu) rs73830668 0.00232
NM_024513.4(FYCO1):c.3323A>G (p.Lys1108Arg) rs139535132 0.00129
NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe) rs150785981 0.00127
NM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn) rs141155944 0.00126
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=) rs149643762 0.00071
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=) rs144525738 0.00070
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly) rs149783680 0.00063
NM_024513.4(FYCO1):c.1887C>T (p.Val629=) rs140372149 0.00062
NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg) rs146592828 0.00060
NM_024513.4(FYCO1):c.56-4A>G rs150959263 0.00047
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr) rs185127002 0.00033
NM_024513.4(FYCO1):c.1425G>A (p.Glu475=) rs144119495 0.00032
NM_024513.4(FYCO1):c.3968C>T (p.Thr1323Met) rs113318190 0.00025
NM_024513.4(FYCO1):c.753G>T (p.Glu251Asp) rs3821885 0.00019
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=) rs373400491 0.00017
NM_024513.4(FYCO1):c.3799+12G>A rs371819736 0.00015
NM_024513.4(FYCO1):c.1502A>G (p.Lys501Arg) rs146010173 0.00011
NM_024513.4(FYCO1):c.3215C>T (p.Ala1072Val) rs148445016 0.00010
NM_024513.4(FYCO1):c.2328G>A (p.Ala776=) rs368345401 0.00008
NM_024513.4(FYCO1):c.4161C>A (p.Thr1387=) rs759845569 0.00005
NM_024513.4(FYCO1):c.417C>T (p.Ser139=) rs201908805 0.00005
NM_024513.4(FYCO1):c.3425T>C (p.Ile1142Thr) rs746250940 0.00004
NM_024513.4(FYCO1):c.2844G>A (p.Glu948=) rs182162227 0.00003
NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=) rs755502918 0.00003
NM_024513.4(FYCO1):c.3645C>T (p.His1215=) rs751989736 0.00002
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) rs748985200 0.00002
NM_024513.4(FYCO1):c.108G>A (p.Thr36=) rs558777911 0.00001
NM_024513.4(FYCO1):c.1659C>T (p.Leu553=) rs746026639 0.00001
NM_024513.4(FYCO1):c.1677G>A (p.Pro559=) rs928579946 0.00001
NM_024513.4(FYCO1):c.2199C>T (p.Leu733=) rs552928719 0.00001
NM_024513.4(FYCO1):c.2334G>A (p.Leu778=) rs369350326 0.00001
NM_024513.4(FYCO1):c.2865G>A (p.Gln955=) rs1575368474 0.00001
NM_024513.4(FYCO1):c.4254C>A (p.Val1418=) rs1553620269 0.00001
NM_024513.4(FYCO1):c.816G>A (p.Glu272=) rs375970181 0.00001
NM_024513.4(FYCO1):c.1815G>T (p.Val605=)
NM_024513.4(FYCO1):c.2937G>A (p.Gln979=)
NM_024513.4(FYCO1):c.3270-6C>T rs113516581
NM_024513.4(FYCO1):c.3438-9_3438-8del rs536305273
NM_024513.4(FYCO1):c.3631G>A (p.Val1211Ile)
NM_024513.4(FYCO1):c.990G>A (p.Glu330=) rs977883967

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