ClinVar Miner

List of variants in gene MARS1 studied for Charcot-Marie-Tooth disease

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Total variants: 62
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HGVS dbSNP
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171
NM_004990.4(MARS1):c.1172A>G (p.His391Arg)
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) rs916967743
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) rs1594821331
NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys)
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln)
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln)
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
NM_004990.4(MARS1):c.1368+15C>T
NM_004990.4(MARS1):c.1368+3A>T
NM_004990.4(MARS1):c.1369-14C>T
NM_004990.4(MARS1):c.1427C>A (p.Pro476His)
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
NM_004990.4(MARS1):c.1448G>A (p.Arg483His)
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261
NM_004990.4(MARS1):c.1731G>A (p.Leu577=)
NM_004990.4(MARS1):c.1753+7A>G rs117914586
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
NM_004990.4(MARS1):c.2112C>T (p.Ala704=)
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165
NM_004990.4(MARS1):c.2204+11G>A rs202080192
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721
NM_004990.4(MARS1):c.2392-8T>A
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) rs781249411
NM_004990.4(MARS1):c.2511C>G (p.Ala837=) rs780483586
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102
NM_004990.4(MARS1):c.2557-12C>G
NM_004990.4(MARS1):c.2557-13C>A
NM_004990.4(MARS1):c.2557-13C>G
NM_004990.4(MARS1):c.2557-14C>T
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu)
NM_004990.4(MARS1):c.2609C>T (p.Ala870Val)
NM_004990.4(MARS1):c.280-13C>T
NM_004990.4(MARS1):c.280-14C>T rs183195960
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530
NM_004990.4(MARS1):c.414+8G>A
NM_004990.4(MARS1):c.415-5C>A rs747351446
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588
NM_004990.4(MARS1):c.663+11G>A
NM_004990.4(MARS1):c.663+20C>T
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.4(MARS1):c.771-15C>G rs201328384
NM_004990.4(MARS1):c.792G>A (p.Arg264=) rs141609469
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_004990.4(MARS1):c.887+17G>A rs201259473
NM_004990.4(MARS1):c.887+17G>C
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) rs139661803
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)

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