List of variants in gene WFS1 reported as pathogenic by GeneDx

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: 19

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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.2020G>A (p.Gly674Arg)	rs200672755	0.00016
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)	rs28937890	0.00007
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)	rs774265764	0.00005
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)	rs143064649	0.00003
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)	rs201239579	0.00002
NM_006005.3(WFS1):c.2170C>T (p.Pro724Ser)	rs777663097	0.00001
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)	rs760337383
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)	rs863224265
NM_006005.3(WFS1):c.124del (p.Arg42fs)	rs1064796781
NM_006005.3(WFS1):c.1549del (p.Arg517fs)	rs2109126109
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)	rs387906930
NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys)	rs71539673
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)	rs104893883
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)	rs74315205
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)	rs863224268
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)	rs797045076
NM_006005.3(WFS1):c.409_424dup (p.Val142fs)	rs1362648752
NM_006005.3(WFS1):c.460+1G>A	rs1191510461

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