ClinVar Miner

List of variants studied for Wolfram syndrome 1 by OMIM

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00007
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) rs104893879 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.1362_1377del (p.Pro453_Tyr454insTer) rs1730884546
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.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.1936_1943del (p.Phe646fs) rs71524374
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) rs28937891
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) rs104893881
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
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) rs104893880
NM_006005.3(WFS1):c.[2119G>T;2649del]

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