ClinVar Miner

List of variants in gene combination ATXN1, LOC108663993 reported as pathogenic for Huntington disease-like syndrome

Included ClinVar conditions (16):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38])	rs193922926

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