ClinVar Miner

List of variants reported as not provided for segmental dystonia

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)	rs148038440	0.00066
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)	rs78427077	0.00026
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr)	rs1574725167

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