ClinVar Miner

List of variants studied for autosomal dominant limb-girdle muscular dystrophy type 1F by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012470.4(TNPO3):c.1359-73G>A rs1154329 0.85345
NM_012470.4(TNPO3):c.2661C>T (p.Ala887=) rs8043 0.49045
NM_012470.4(TNPO3):c.759C>G (p.Leu253=) rs2305324 0.35727

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