List of variants in gene KARS1 reported as likely pathogenic for not provided

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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_005548.3(KARS1):c.85G>C (p.Ala29Pro)	rs369238198	0.00005
NM_005548.3(KARS1):c.690A>T (p.Arg230Ser)	rs1370913867	0.00002
NM_005548.3(KARS1):c.1688A>T (p.Asn563Ile)	rs746483110	0.00001
NM_005548.3(KARS1):c.1514C>G (p.Pro505Arg)
NM_005548.3(KARS1):c.1540G>T (p.Glu514Ter)
NM_005548.3(KARS1):c.1657C>T (p.Arg553Ter)
NM_005548.3(KARS1):c.238C>T (p.Arg80Cys)

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