ClinVar Miner

List of variants studied for Wolfram syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) rs763677869
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter) rs150465110
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.320G>A (p.Gly107Glu) rs71530914

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