ClinVar Miner

List of variants studied for Ullrich congenital muscular dystrophy 1A by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_004369.4(COL6A3):c.1921A>G (p.Ile641Val)
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) rs113332380

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