ClinVar Miner

List of variants studied for Ullrich congenital muscular dystrophy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter) rs2077858751
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg) rs1471465037
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val) rs1603590649

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