ClinVar Miner

List of variants in gene WFS1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00003
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
NM_006005.3(WFS1):c.2059C>T (p.Gln687Ter) rs773554624 0.00001
NM_006005.3(WFS1):c.1289C>T (p.Ser430Leu) rs1235562712
NM_006005.3(WFS1):c.1362C>A (p.Tyr454Ter)
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) rs398123066
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs) rs1064797306
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) rs760631912
NM_006005.3(WFS1):c.712+1G>A rs1281745640

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