List of variants in gene COL6A2, FTCD studied for Bethlem myopathy 1A

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

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)	rs6652	0.14487
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=)	rs9977394	0.13855
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)	rs35548026	0.08193
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)	rs11910483	0.02152
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=)	rs1042930	0.01149
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)	rs117931394	0.00474
NC_000021.8:g.(?_47551848)_(47575437_?)dup
NC_000021.8:g.(?_47552332)_(47557196_?)del
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)	rs11554669

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