List of variants in gene combination COL12A1, LOC126859712 reported as uncertain significance for Bethlem myopathy 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val)	rs2149366807
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr)	rs1769231502
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val)	rs910431488
NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe)	rs2533199678

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