List of variants in gene DARS1 reported as pathogenic for Hypomyelination with brain stem and spinal cord involvement and leg spasticity

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001349.4(DARS1):c.1480C>G (p.Arg494Gly)	rs147077598	0.00002
NM_001349.4(DARS1):c.1459C>T (p.Arg487Cys)	rs587776984	0.00001
NM_001349.4(DARS1):c.839A>T (p.His280Leu)	rs527236040	0.00001
NM_001349.4(DARS1):c.1099G>T (p.Asp367Tyr)	rs370064817
NM_001349.4(DARS1):c.1379G>A (p.Arg460His)	rs587776985
NM_001349.4(DARS1):c.766A>C (p.Met256Leu)	rs886037635
NM_001349.4(DARS1):c.821C>T (p.Ala274Val)	rs369152939

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