ClinVar Miner

List of variants in gene POMT1 reported by Genetics Institute, Tel Aviv Sourasky Medical Center

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr) rs757984572

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