List of variants reported as pathogenic by Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre

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Total variants: 16

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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_001379610.1(SPINK1):c.194+2T>C	rs148954387	0.00012
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)	rs143064649	0.00003
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)	rs893256143	0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln)	rs779184183	0.00001
NM_000162.5(GCK):c.772G>A (p.Gly258Ser)	rs1583596378
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)	rs587783672
NM_000545.8(HNF1A):c.1139del (p.Val380fs)	rs1877113317
NM_000545.8(HNF1A):c.1310-1G>A	rs1877168655
NM_000545.8(HNF1A):c.824A>T (p.Glu275Val)	rs199890776
NM_006005.3(WFS1):c.1362_1377del (p.Pro453_Tyr454insTer)	rs1730884546
NM_006005.3(WFS1):c.1514G>A (p.Cys505Tyr)	rs1445355190
NM_006005.3(WFS1):c.2015T>C (p.Leu672Pro)	rs1222900668
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)	rs142428158
NM_173560.4(RFX6):c.224-12A>G	rs587776515

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