ClinVar Miner

List of variants reported as likely pathogenic for Huntington disease and related disorders by 3billion, Medical Genetics

Included ClinVar conditions (18):

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)	rs2122436225
NM_001388492.1(HTT):c.54GCA[40] (p.Gln18_Gln38dup)	rs71180116

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