List of variants studied for dystonic disorder by New York Genome Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.1298+6G>A	rs578207030	0.00010
NM_014727.3(KMT2B):c.3206C>G (p.Ser1069Cys)	rs748861506	0.00003
NM_014727.3(KMT2B):c.3190C>A (p.Pro1064Thr)	rs1350666277	0.00002
NM_014727.3(KMT2B):c.4460G>A (p.Arg1487His)	rs753899619	0.00001
NM_014727.3(KMT2B):c.5621G>A (p.Arg1874Gln)	rs1036243378	0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)	rs782744167	0.00001
NM_001385079.1(PDE10A):c.3128C>A (p.Ser1043Tyr)	rs1781435066
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)	rs767337086
NM_003124.5(SPR):c.10G>A (p.Gly4Arg)	rs2105239914
NM_003919.3(SGCE):c.110-9608G>A	rs2117037022
NM_006516.4(SLC2A1):c.18+5439G>T	rs1570607542
NM_014727.3(KMT2B):c.1115A>G (p.Glu372Gly)	rs1969140079
NM_014727.3(KMT2B):c.3856A>T (p.Thr1286Ser)	rs2146451086
NM_014727.3(KMT2B):c.5462C>G (p.Pro1821Arg)	rs748336996
NM_015488.5(PNKD):c.628C>A (p.His210Asn)	rs886055620
NM_018105.3(THAP1):c.547G>T (p.Val183Phe)	rs370082539
NM_031418.4(ANO3):c.702C>A (p.Cys234Ter)	rs886037882
NM_031418.4(ANO3):c.944G>A (p.Arg315His)
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr)	rs1900084663

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.