ClinVar Miner

List of variants in gene COL12A1 reported as pathogenic for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

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Total variants: 8
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NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter)
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs) rs1554182935
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs)
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter)
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs)
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs)
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter)

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