ClinVar Miner

List of variants reported as pathogenic for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 by Invitae

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Total variants: 16
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HGVS dbSNP
NC_000006.12:g.75117545del
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter) rs1582139761
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs) rs1554182935
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs) rs1582133194
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs)
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter) rs1562223444
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs)
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs) rs1471550984
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter)
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter)
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs) rs1582068925
NM_004370.6(COL12A1):c.8100+2T>C
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter)
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) rs371399251

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