List of variants in gene COL6A3 reported as benign for Dystonia 27

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro)	rs2270669	0.81638
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr)	rs6728818	0.68552
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=)	rs3790993	0.56512
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=)	rs4433949	0.38748
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)	rs1131296	0.36920
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=)	rs2646254	0.25503
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=)	rs2645774	0.23421
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=)	rs12622093	0.20507
NM_004369.4(COL6A3):c.7092+26G>A	rs2270656	0.19247
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=)	rs2646260

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