ClinVar Miner

List of variants in gene FARS2 studied for Inborn genetic diseases

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.1069C>T (p.Leu357Phe) rs370983000 0.00016
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln) rs148921184 0.00016
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_006567.5(FARS2):c.792del (p.Asp265fs) rs761097220 0.00011
NM_006567.5(FARS2):c.674C>T (p.Ala225Val) rs745400923 0.00004
NM_006567.5(FARS2):c.1243C>T (p.Arg415Cys) rs759833179 0.00001
NM_006567.5(FARS2):c.625A>G (p.Ile209Val) rs764360302 0.00001
NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln) rs762302341
NM_006567.5(FARS2):c.1235A>G (p.His412Arg)
NM_006567.5(FARS2):c.629A>G (p.Lys210Arg) rs751662656
NM_006567.5(FARS2):c.697A>G (p.Met233Val)
NM_006567.5(FARS2):c.700G>A (p.Glu234Lys) rs1562015500
NM_006567.5(FARS2):c.754G>C (p.Ala252Pro)
NM_006567.5(FARS2):c.758A>G (p.His253Arg)
NM_006567.5(FARS2):c.773-6T>A
NM_006567.5(FARS2):c.781A>T (p.Ile261Leu) rs201927340
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter) rs761709212
NM_006567.5(FARS2):c.892C>G (p.Leu298Val)
NM_006567.5(FARS2):c.907G>A (p.Gly303Ser) rs1770886046
NM_006567.5(FARS2):c.955C>A (p.Leu319Ile) rs772822506

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