ClinVar Miner

List of variants reported as likely pathogenic for Wolfram syndrome 1

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Total variants: 36
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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.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006005.3(WFS1):c.1088A>C (p.Lys363Thr) rs1386447227 0.00001
NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter) rs377726402 0.00001
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) rs797045075 0.00001
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) rs201078003 0.00001
NM_006005.3(WFS1):c.2555_2560dup (p.Gln853_Leu854insProGln) rs730880368 0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006005.3(WFS1):c.1024_1032dup (p.Phe344_Ile345insAlaPhePhe)
NM_006005.3(WFS1):c.115G>T (p.Glu39Ter) rs774330485
NM_006005.3(WFS1):c.1291G>C (p.Glu431Gln) rs2109125661
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) rs1578609780
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) rs727503745
NM_006005.3(WFS1):c.1491_1492insT (p.Val498fs)
NM_006005.3(WFS1):c.1523A>G (p.Tyr508Cys) rs1477371498
NM_006005.3(WFS1):c.1627C>T (p.Leu543Phe)
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.1917G>A (p.Trp639Ter)
NM_006005.3(WFS1):c.2006A>G (p.Tyr669Cys) rs1402999203
NM_006005.3(WFS1):c.2197T>G (p.Cys733Gly) rs2109127192
NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs) rs1064797306
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) rs1578612324
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.2390_2391insACG (p.Asp797delinsGluArg) rs863225126
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) rs1272826809
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs) rs863224268
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.320G>A (p.Gly107Glu) rs71530914
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006005.3(WFS1):c.578dup (p.Gln194fs) rs779272128
NM_006005.3(WFS1):c.873C>T (p.Tyr291=) rs777580652

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