ClinVar Miner

List of variants reported as pathogenic for Wolfram syndrome 1 by Molecular Endocrinology Laboratory, Christian Medical College

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1107_1108insA (p.Ala370fs) rs2109125327
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1961C>G (p.Ser654Ter) rs1189512943
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs) rs863224268
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824

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