ClinVar Miner

List of variants in gene COL12A1 studied for Bethlem myopathy 2

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Total variants: 5
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NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp) rs796052094

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