List of variants in gene COL12A1 studied for Bethlem myopathy 2

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP
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.6778A>G (p.Thr2260Ala)
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)	rs796052093
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr)
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)	rs749760185
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp)	rs796052094

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