ClinVar Miner

List of variants in gene HPCA reported as pathogenic for Torsion dystonia 2

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002143.3(HPCA):c.568G>A (p.Ala190Thr) rs550921485 0.00001
NM_002143.3(HPCA):c.212C>A (p.Thr71Asn) rs775863165
NM_002143.3(HPCA):c.225C>A (p.Asn75Lys) rs786205675

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