List of variants reported as likely pathogenic for Ullrich congenital muscular dystrophy by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_004370.6(COL12A1):c.4418-1G>A	rs984784417	0.00001
NM_004370.6(COL12A1):c.5230+1G>A	rs1274606112	0.00001
NM_004370.6(COL12A1):c.3715+1G>T
NM_004370.6(COL12A1):c.395-2A>C	rs1562310723
NM_004370.6(COL12A1):c.4417+2_4417+3del
NM_004370.6(COL12A1):c.5097+1G>A
NM_004370.6(COL12A1):c.5664+1G>A	rs1766437216
NM_004370.6(COL12A1):c.5795-2A>C
NM_004370.6(COL12A1):c.6067+1G>A	rs1766265062
NM_004370.6(COL12A1):c.6724+1G>C
NM_004370.6(COL12A1):c.6872-2A>G	rs2149372690
NM_004370.6(COL12A1):c.73+1G>A
NM_004370.6(COL12A1):c.8101-1G>T	rs2149349312
NM_004370.6(COL12A1):c.8179-2A>G	rs1768495540
NM_004370.6(COL12A1):c.8265+1G>A	rs2149347624
NM_004370.6(COL12A1):c.8319+1G>C	rs1768416586
NM_004370.6(COL12A1):c.8320-15_8379delinsCA
NM_004370.6(COL12A1):c.8360_8365delinsTCCAGGCCTCCA (p.Pro2787_Gly2789delinsLeuGlnAlaSerSer)
NM_004370.6(COL12A1):c.8393_8415+5del	rs2149344192
NM_004370.6(COL12A1):c.8415+1G>C	rs1768356177

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