List of variants in gene COL6A3 reported as likely pathogenic 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)	rs139260335	0.00057
GRCh37/hg19 2q37.3(chr2:238234151-238234418)x0
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp)
NM_004369.4(COL6A3):c.8966-2A>G

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