ClinVar Miner

List of variants in gene COL6A2 reported as pathogenic for Ullrich congenital muscular dystrophy 1

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Total variants: 11
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HGVS dbSNP
COL6A2, 26-BP DEL, NT731
COL6A2, IVS17AS, A-G, -2
NM_001849.3(COL6A2):c.1117-10A>G rs1568931397
NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) rs267606749
NM_001849.3(COL6A2):c.1771-1G>T rs748035948
NM_001849.3(COL6A2):c.1856_1861del (p.Val619_Ile620del) rs398122821
NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.3(COL6A2):c.2626C>A (p.Arg876Ser) rs387906608
NM_058174.3(COL6A2):c.1151dup (p.Glu386fs)
NM_058174.3(COL6A2):c.1771-1G>A

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