ClinVar Miner

List of variants reported as likely pathogenic for Huntington disease and related disorders by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)	rs368682034	0.00001
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer)	rs1600477446
Single allele

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