ClinVar Miner

List of variants in gene combination COL12A1, LOC126859712 reported as benign for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=) rs200230227 0.00071
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495 0.00054
NM_004370.6(COL12A1):c.7354+10T>A rs199945254 0.00017
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7344C>T (p.Ile2448=)

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