ClinVar Miner

List of variants in gene GARS1 reported as pathogenic by Invitae

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn) rs1554338262
NM_002047.4(GARS1):c.1001T>G (p.Ile334Ser) rs1554338262
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn) rs1554337369
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.875T>G (p.Met292Arg) rs1064795123
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.979G>A (p.Gly327Arg) rs1584034430
NM_002047.4(GARS1):c.999G>C (p.Glu333Asp)

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