ClinVar Miner

List of variants in gene KARS1 reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001130089.1(KARS1):c.871T>G (p.Phe291Val) rs772410450
NM_005548.2(KARS1):c.1493C>T (p.Ala498Val) rs1415687857
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met) rs144274136
NM_005548.3(KARS1):c.797T>C (p.Ile266Thr)

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