ClinVar Miner

List of variants studied for autosomal dominant limb-girdle muscular dystrophy type 1F by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_012470.4(TNPO3):c.1090A>C (p.Ile364Leu) rs983345752 0.00003

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