List of variants in gene KARS1 reported as uncertain significance for autosomal recessive disease

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)	rs149772470	0.00160
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln)	rs11557669	0.00044
NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile)	rs773192982	0.00009
NM_005548.3(KARS1):c.382G>A (p.Val128Met)	rs374126791	0.00004
NM_005548.3(KARS1):c.797T>C (p.Ile266Thr)	rs762673443	0.00003
NM_005548.3(KARS1):c.1520G>A (p.Arg507Gln)	rs752076127	0.00002
NM_005548.3(KARS1):c.787T>G (p.Phe263Val)	rs772410450	0.00001
NM_005548.3(KARS1):c.1513C>G (p.Pro505Ala)	rs1555512658
NM_005548.3(KARS1):c.421A>C (p.Lys141Gln)	rs761347066

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