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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 132

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HGVS	dbSNP
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
NM_004990.4(MARS1):c.1091+2dup	rs754216322
NM_004990.4(MARS1):c.1095C>T (p.Ile365=)	rs1555167079
NM_004990.4(MARS1):c.110-10C>T	rs113549256
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)	rs140467171
NM_004990.4(MARS1):c.1172A>G (p.His391Arg)
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)	rs141340466
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys)	rs916967743
NM_004990.4(MARS1):c.1181G>A (p.Arg394His)	rs769544594
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.1261T>C (p.Cys421Arg)	rs751129809
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys)	rs767132960
NM_004990.4(MARS1):c.1294-5C>T	rs149946100
NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln)
NM_004990.4(MARS1):c.132C>T (p.Thr44=)	rs1555165361
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala)	rs780028144
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
NM_004990.4(MARS1):c.1360C>T (p.Leu454=)	rs139002397
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu)	rs1395622723
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.1369-7A>C	rs377050640
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly)	rs1408685568
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.1535A>G (p.Asp512Gly)
NM_004990.4(MARS1):c.1636-9T>C	rs373186969
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly)
NM_004990.4(MARS1):c.1673C>A (p.Pro558His)	rs771808261
NM_004990.4(MARS1):c.1689C>T (p.Val563=)	rs117833843
NM_004990.4(MARS1):c.1731G>A (p.Leu577=)
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile)
NM_004990.4(MARS1):c.1753+7A>G	rs117914586
NM_004990.4(MARS1):c.1812G>A (p.Gly604=)	rs117633211
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)	rs139600659
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.1967+3A>G
NM_004990.4(MARS1):c.1968-8C>T	rs1209991469
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly)	rs1594835469
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly)	rs1205620243
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile)	rs558631075
NM_004990.4(MARS1):c.2112C>T (p.Ala704=)
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)	rs148501787
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)
NM_004990.4(MARS1):c.2163G>C (p.Val721=)	rs762587995
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)	rs770756933
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)	rs113808165
NM_004990.4(MARS1):c.2204+10C>T	rs376636502
NM_004990.4(MARS1):c.2204+11G>A	rs202080192
NM_004990.4(MARS1):c.2209C>A (p.Arg737=)	rs139536122
NM_004990.4(MARS1):c.2256C>G (p.Leu752=)	rs201540140
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)	rs1594836361
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp)	rs369313141
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.244A>C (p.Asn82His)	rs758051760
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro)	rs200404964
NM_004990.4(MARS1):c.2472G>A (p.Thr824=)	rs1594838097
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu)	rs138343927
NM_004990.4(MARS1):c.2491G>A (p.Val831Ile)	rs199773459
NM_004990.4(MARS1):c.2511C>G (p.Ala837=)	rs780483586
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)	rs773914259
NM_004990.4(MARS1):c.2532G>A (p.Ala844=)	rs73344102
NM_004990.4(MARS1):c.2556+1G>A
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.2613G>A (p.Ala871=)	rs373439522
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs)	rs1172463219
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn)	rs1594838677
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg)	rs779548081
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)	rs35843015
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val)	rs1027516483
NM_004990.4(MARS1):c.280-13C>T
NM_004990.4(MARS1):c.280-14C>T	rs183195960
NM_004990.4(MARS1):c.330G>T (p.Gly110=)
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.365C>A (p.Thr122Asn)	rs201007223
NM_004990.4(MARS1):c.414+8G>A
NM_004990.4(MARS1):c.415-5C>A	rs747351446
NM_004990.4(MARS1):c.415-5C>G
NM_004990.4(MARS1):c.477C>T (p.Pro159=)	rs117101415
NM_004990.4(MARS1):c.496C>T (p.Leu166=)	rs760702485
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter)	rs753083306
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser)	rs1565637642
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)	rs138776588
NM_004990.4(MARS1):c.626G>A (p.Ser209Asn)	rs141671963
NM_004990.4(MARS1):c.630C>T (p.Pro210=)	rs143741525
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp)
NM_004990.4(MARS1):c.659del (p.Pro220fs)
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)	rs200334446
NM_004990.4(MARS1):c.663+11G>A
NM_004990.4(MARS1):c.663+20C>T
NM_004990.4(MARS1):c.663+8A>C	rs199843552
NM_004990.4(MARS1):c.680C>T (p.Thr227Ile)	rs73344082
NM_004990.4(MARS1):c.692A>T (p.Glu231Val)
NM_004990.4(MARS1):c.699T>G (p.Ile233Met)	rs201597392
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)	rs778753999
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu)	rs146146070
NM_004990.4(MARS1):c.747G>A (p.Pro249=)	rs200490364
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro)	rs139033078
NM_004990.4(MARS1):c.771-15C>G	rs201328384
NM_004990.4(MARS1):c.792G>A (p.Arg264=)	rs141609469
NM_004990.4(MARS1):c.801C>T (p.Leu267=)	rs151260441
NM_004990.4(MARS1):c.823G>A (p.Val275Ile)	rs1017657436
NM_004990.4(MARS1):c.831T>C (p.Asn277=)	rs367995771
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe)	rs776026574
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.906_919delinsCTC (p.Gln302fs)	rs1555166943
NM_004990.4(MARS1):c.915C>T (p.Thr305=)	rs199641659
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)

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