ClinVar Miner

List of variants studied for Wolfram syndrome by Laboratory of Prof. Karen Avraham, Tel Aviv University

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00021
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) rs371911218 0.00006
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006005.3(WFS1):c.1088A>C (p.Lys363Thr) rs1386447227 0.00001
NM_006005.3(WFS1):c.2266C>G (p.Arg756Gly)
NM_006005.3(WFS1):c.2586G>C (p.Lys862Asn)
NM_006005.3:c.[1673G>A];[1549C>T]

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