List of variants in gene WFS1 reported as pathogenic by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)	rs1443751733	0.00002
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter)	rs104893879	0.00001
NM_006005.3(WFS1):c.712+1G>T	rs1281745640	0.00001
NM_006005.3(WFS1):c.124del (p.Arg42fs)	rs1064796781
NM_006005.3(WFS1):c.1362C>G (p.Tyr454Ter)	rs1043668392
NM_006005.3(WFS1):c.1362_1377del (p.Pro453_Tyr454insTer)	rs1730884546
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs)	rs1730930342
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter)	rs760171298
NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter)	rs1553879087
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)	rs1553876668
NM_006005.3(WFS1):c.439del (p.Arg147fs)	rs1560408865
NM_006005.3(WFS1):c.578dup (p.Gln194fs)	rs779272128
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter)	rs104893880
NM_006005.3(WFS1):c.861+2T>C	rs1730600472

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