List of variants in gene WFS1 reported as pathogenic for cataract 41

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	rs71530923	0.00013
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)	rs143064649	0.00003
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter)	rs772357412	0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)	rs1443751733	0.00002
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)	rs28937892	0.00001
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)	rs747658523	0.00001
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)	rs760337383
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs)	rs763677869
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)	rs863224265
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)	rs398123066
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)	rs781262017
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter)	rs377544135
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs)	rs1730930342
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)	rs797045076
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)	rs142428158

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