ClinVar Miner

List of variants in gene KCTD17 reported as pathogenic for combined dystonia

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001282684.2(KCTD17):c.413G>A (p.Arg138His) rs786205860
NM_001282684.2(KCTD17):c.547dup (p.Val183fs)

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