List of variants studied for segmental dystonia by Department of Neurology, Xijing Hospital, Fourth Military Medical University

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)	rs80272723	0.01000
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)	rs114596320	0.00032
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)	rs114322958	0.00031
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)	rs116794756	0.00030
NM_004369.4(COL6A3):c.4900+9C>T	rs117345850	0.00026
NM_004369.4(COL6A3):c.1065C>T (p.Ala355=)	rs115155458	0.00019
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=)	rs115757876	0.00017
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)	rs115819851	0.00017
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met)	rs114511558	0.00015
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=)	rs199759398	0.00004
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys)	rs751952844	0.00002
NM_004369.4(COL6A3):c.237T>C (p.Ala79=)	rs747312241	0.00002
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn)	rs886043408	0.00001
NM_004369.4(COL6A3):c.8965+9G>A

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