ClinVar Miner

List of variants in gene GARS1 reported as benign by Molecular Genetics Laboratory, London Health Sciences Centre

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_002047.4(GARS1):c.222+5C>T rs2072236 0.09556
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438 0.09548
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593 0.08113
NM_002047.4(GARS1):c.1613+9T>C rs75855065 0.04917
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270 0.04182
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502 0.04180
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770 0.01578
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641 0.01523
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833

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