ClinVar Miner

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

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Total variants: 5

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HGVS	dbSNP
NM_004370.6(COL12A1):c.395-2A>C	rs1562310723
NM_004370.6(COL12A1):c.5230+1G>A	rs1274606112
NM_004370.6(COL12A1):c.8179-2A>G
NM_004370.6(COL12A1):c.8319+1G>C
NM_004370.6(COL12A1):c.8415+1G>C

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