ClinVar Miner

List of variants studied for Dystonia 27 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001

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