ClinVar Miner

List of variants reported as likely pathogenic for combined dystonia by Baylor Genetics

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) rs1064794321
NM_015836.4(WARS2):c.797del (p.Pro266fs) rs746478253
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2733CTT[1] (p.Phe913del)
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887

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