ClinVar Miner

List of variants in gene GARS1 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_002047.4(GARS1):c.428-17C>T rs370452042 0.00040
NM_002047.4(GARS1):c.1904-18T>C rs41275991 0.00036
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_002047.4(GARS1):c.1743G>C (p.Leu581=) rs370844461 0.00014
NM_002047.4(GARS1):c.1809+14T>C rs367739730 0.00010
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002047.4(GARS1):c.1904-19del rs745958570 0.00005
NM_002047.4(GARS1):c.816A>G (p.Leu272=) rs777128525 0.00005
NM_002047.4(GARS1):c.1032-14G>A rs766263055 0.00004
NM_002047.4(GARS1):c.1158C>T (p.Ser386=) rs373576697 0.00004
NM_002047.4(GARS1):c.1737C>T (p.Phe579=) rs752464405 0.00004
NM_002047.4(GARS1):c.282A>G (p.Ala94=) rs571004464 0.00004
NM_002047.4(GARS1):c.1700-13A>G rs762966640 0.00003
NM_002047.4(GARS1):c.-14A>G rs1404831052 0.00001
NM_002047.4(GARS1):c.129G>T (p.Pro43=) rs1326074084 0.00001
NM_002047.4(GARS1):c.1809+13G>A rs1183436159 0.00001
NM_002047.4(GARS1):c.1809+16C>T rs752229312 0.00001
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.1644A>G (p.Thr548=) rs1783125064
NM_002047.4(GARS1):c.1809+8G>C rs766137918
NM_002047.4(GARS1):c.1904-19C>T rs1204535363
NM_002047.4(GARS1):c.881+17G>A rs1791560409

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