ClinVar Miner

List of variants in gene HARS1 studied for Cerebellar ataxia; Motor delay; Scoliosis; Dysarthria; Pes planus; Urinary urgency; Microcephaly; Intellectual disability; Joint laxity; Hammertoe; Distal muscle weakness

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	rs754304255
NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)	rs1581504953

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