ClinVar Miner

List of variants reported as pathogenic for Huntington disease-like syndrome by Centogene AG - the Rare Disease Company

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NC_000020.11:g.3863511_3918336del

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