List of variants studied for combined dystonia by GenomeConnect, ClinGen

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		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004606.5(TAF1):c.235+3G>A	rs368024152	0.00014
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)	rs76672402	0.00010
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)	rs560303559	0.00005
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)	rs780529723	0.00001
NM_015488.5(PNKD):c.408C>G (p.Ile136Met)	rs763052723

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