ClinVar Miner

List of variants studied for limb-girdle muscular dystrophy by Ege University Pediatric Genetics, Ege University

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.2024T>C (p.Leu675Pro) rs782636181 0.00008
NM_201384.3(PLEC):c.5044C>T (p.Gln1682Ter) rs1586920109

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