ClinVar Miner

List of variants reported as likely pathogenic for early-onset zonular cataract by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 0.00006
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006005.3(WFS1):c.2293del (p.Cys765fs) rs1381011685 0.00004
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile) rs781575919 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) rs1335076773 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006005.3(WFS1):c.1500_1501insAGCGTCCCGTGCCTGTCGGCCACCTGGTCGTCCTCAAT (p.Val501fs)
NM_006005.3(WFS1):c.1538_1539dup (p.Leu514fs)
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) rs1560419631
NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg)
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.1699_1704del (p.565LF[1])
NM_006005.3(WFS1):c.1846dup (p.Ala616fs)
NM_006005.3(WFS1):c.1990_1991del (p.Leu664fs)
NM_006005.3(WFS1):c.2069G>A (p.Cys690Tyr)
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) rs28937891
NM_006005.3(WFS1):c.2314_2315insT (p.Arg772fs)
NM_006005.3(WFS1):c.2321dup (p.Phe775fs)
NM_006005.3(WFS1):c.2336T>G (p.Val779Gly)
NM_006005.3(WFS1):c.2455_2502del (p.Gln819_Gly834del)
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824
NM_006005.3(WFS1):c.559C>T (p.Leu187Phe)
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006005.3(WFS1):c.578dup (p.Gln194fs) rs779272128
NM_006005.3(WFS1):c.643C>T (p.Gln215Ter)
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264
NM_006005.3(WFS1):c.9dup (p.Asn4fs) rs2109107823

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