ClinVar Miner

List of variants in gene GARS1 studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (60):
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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_001316772.1(GARS1):c.-207C>G rs903029869
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) rs1060502836
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) rs879254346
NM_002047.4(GARS1):c.2095-6C>T rs2240401
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920
NM_002047.4(GARS1):c.34G>A (p.Ala12Thr)
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438
NM_002047.4(GARS1):c.998A>T (p.Glu333Val) rs863224873

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