ClinVar Miner

List of variants in gene HARS1 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002109.6(HARS1):c.1458+7G>A rs58302597 0.18812
NM_002109.6(HARS1):c.588C>T (p.Cys196=) rs2230361 0.07468
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val) rs34732372 0.00428
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) rs34790864 0.00375
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996 0.00272
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407 0.00014
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639 0.00009
NM_002109.6(HARS1):c.1312-8C>T rs772505507 0.00006
NM_002109.6(HARS1):c.1177G>A (p.Val393Met) rs192923161 0.00001
NM_002109.6(HARS1):c.1047A>G (p.Glu349=) rs1581504369
NM_002109.6(HARS1):c.174C>G (p.Thr58=) rs761695061
NM_002109.6(HARS1):c.745G>T (p.Val249Leu) rs1223501940

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