ClinVar Miner

List of variants in gene MARS1 reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165 0.00541
NM_004990.4(MARS1):c.680C>T (p.Thr227Ile) rs73344082 0.00186
NM_004990.4(MARS1):c.2491G>A (p.Val831Ile) rs199773459 0.00075
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015 0.00070
NM_004990.4(MARS1):c.1447C>T (p.Arg483Cys) rs143007366 0.00068
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721 0.00068
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588 0.00063
NM_004990.4(MARS1):c.663+11G>A rs76150936 0.00061
NM_004990.4(MARS1):c.1636-9T>C rs373186969 0.00059
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) rs139661803 0.00052
NM_004990.4(MARS1):c.1293+16C>A rs200792020 0.00041
NM_004990.4(MARS1):c.792G>A (p.Arg264=) rs141609469 0.00040
NM_004990.4(MARS1):c.2204+10C>T rs376636502 0.00039
NM_004990.4(MARS1):c.915C>T (p.Thr305=) rs199641659 0.00035
NM_004990.4(MARS1):c.369C>T (p.His123=) rs145292793 0.00026
NM_004990.4(MARS1):c.415-5C>A rs747351446 0.00025
NM_004990.4(MARS1):c.1149T>C (p.Thr383=) rs139772690 0.00021
NM_004990.4(MARS1):c.1369-7A>C rs377050640 0.00016
NM_004990.4(MARS1):c.414+9G>C rs375026310 0.00016
NM_004990.4(MARS1):c.110-10C>T rs113549256 0.00011
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) rs141340466 0.00011
NM_004990.4(MARS1):c.201-13T>C rs201531908 0.00011
NM_004990.4(MARS1):c.771-15C>G rs201328384 0.00008
NM_004990.4(MARS1):c.238C>T (p.Leu80Phe) rs190598622 0.00007
NM_004990.4(MARS1):c.1995T>C (p.Phe665=) rs1034831965 0.00006
NM_004990.4(MARS1):c.231A>G (p.Gln77=) rs142153017 0.00006
NM_004990.4(MARS1):c.2464-13T>C rs377174430 0.00006
NM_004990.4(MARS1):c.2613G>A (p.Ala871=) rs373439522 0.00006
NM_004990.4(MARS1):c.2622G>A (p.Ala874=) rs201214343 0.00006
NM_004990.4(MARS1):c.1284C>T (p.Val428=) rs752350446 0.00005
NM_004990.4(MARS1):c.1209C>T (p.Gly403=) rs746685572 0.00004
NM_004990.4(MARS1):c.1908G>A (p.Thr636=) rs529046133 0.00004
NM_004990.4(MARS1):c.2256C>G (p.Leu752=) rs201540140 0.00004
NM_004990.4(MARS1):c.2610T>C (p.Ala870=) rs769627922 0.00004
NM_004990.4(MARS1):c.630C>T (p.Pro210=) rs143741525 0.00004
NM_004990.4(MARS1):c.747G>A (p.Pro249=) rs200490364 0.00004
NM_004990.4(MARS1):c.831T>C (p.Asn277=) rs367995771 0.00004
NM_004990.4(MARS1):c.1294-19C>G rs368800423 0.00003
NM_004990.4(MARS1):c.1369-14C>T rs759180013 0.00003
NM_004990.4(MARS1):c.1479C>A (p.Arg493=) rs148191586 0.00003
NM_004990.4(MARS1):c.1488C>T (p.Thr496=) rs997411162 0.00003
NM_004990.4(MARS1):c.2277C>T (p.Tyr759=) rs377546356 0.00003
NM_004990.4(MARS1):c.1635+11C>A rs758827704 0.00002
NM_004990.4(MARS1):c.1636-7C>G rs563778768 0.00002
NM_004990.4(MARS1):c.1794C>T (p.Arg598=) rs758046761 0.00002
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995 0.00002
NM_004990.4(MARS1):c.2511C>G (p.Ala837=) rs780483586 0.00002
NM_004990.4(MARS1):c.2557-14C>T rs935467477 0.00002
NM_004990.4(MARS1):c.280-13C>T rs375281035 0.00002
NM_004990.4(MARS1):c.496C>T (p.Leu166=) rs760702485 0.00002
NM_004990.4(MARS1):c.663+20C>T rs780847522 0.00002
NM_004990.4(MARS1):c.887+12T>G rs1027867373 0.00002
NM_004990.4(MARS1):c.887+16C>T rs767628528 0.00002
NM_004990.4(MARS1):c.1008C>T (p.Tyr336=) rs764131535 0.00001
NM_004990.4(MARS1):c.1092-6C>T rs747944261 0.00001
NM_004990.4(MARS1):c.132C>T (p.Thr44=) rs1555165361 0.00001
NM_004990.4(MARS1):c.1338G>A (p.Ser446=) rs781410179 0.00001
NM_004990.4(MARS1):c.1368+15C>T rs371511467 0.00001
NM_004990.4(MARS1):c.1393T>C (p.Leu465=) rs766084248 0.00001
NM_004990.4(MARS1):c.1524A>G (p.Glu508=) rs754137221 0.00001
NM_004990.4(MARS1):c.1642C>T (p.Leu548=) rs922686526 0.00001
NM_004990.4(MARS1):c.1716G>A (p.Glu572=) rs761794855 0.00001
NM_004990.4(MARS1):c.1731G>A (p.Leu577=) rs773313017 0.00001
NM_004990.4(MARS1):c.1968-19T>C rs1010906235 0.00001
NM_004990.4(MARS1):c.2115G>A (p.Leu705=) rs1372985175 0.00001
NM_004990.4(MARS1):c.2313G>T (p.Leu771=) rs1381114924 0.00001
NM_004990.4(MARS1):c.414+8G>A rs371003913 0.00001
NM_004990.4(MARS1):c.432C>T (p.Ala144=) rs1046252025 0.00001
NM_004990.4(MARS1):c.483C>T (p.Tyr161=) rs1487140877 0.00001
NM_004990.4(MARS1):c.663+8A>C rs199843552 0.00001
NM_004990.4(MARS1):c.999C>T (p.Cys333=) rs775376086 0.00001
NM_004990.4(MARS1):c.1059T>A (p.Ile353=)
NM_004990.4(MARS1):c.1091+15A>T
NM_004990.4(MARS1):c.1091+19G>A
NM_004990.4(MARS1):c.1091+20G>A
NM_004990.4(MARS1):c.1092-18C>T
NM_004990.4(MARS1):c.1095C>T (p.Ile365=) rs1555167079
NM_004990.4(MARS1):c.110-13A>T rs2139996676
NM_004990.4(MARS1):c.110-5A>C rs749110648
NM_004990.4(MARS1):c.110-5A>G rs749110648
NM_004990.4(MARS1):c.1200C>T (p.Phe400=)
NM_004990.4(MARS1):c.120C>T (p.Val40=)
NM_004990.4(MARS1):c.1212G>A (p.Val404=) rs2140019580
NM_004990.4(MARS1):c.1221C>T (p.Phe407=)
NM_004990.4(MARS1):c.1233G>A (p.Glu411=)
NM_004990.4(MARS1):c.123G>C (p.Pro41=)
NM_004990.4(MARS1):c.126C>T (p.Phe42=)
NM_004990.4(MARS1):c.1284C>G (p.Val428=)
NM_004990.4(MARS1):c.1293+17C>T rs1209786533
NM_004990.4(MARS1):c.1293+9A>C
NM_004990.4(MARS1):c.1294-4G>A
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.1294-6T>C
NM_004990.4(MARS1):c.1296G>A (p.Lys432=)
NM_004990.4(MARS1):c.1311C>T (p.Val437=)
NM_004990.4(MARS1):c.1332G>A (p.Val444=) rs1594824620
NM_004990.4(MARS1):c.1338G>C (p.Ser446=) rs781410179
NM_004990.4(MARS1):c.1338G>T (p.Ser446=) rs781410179
NM_004990.4(MARS1):c.1369-10G>A
NM_004990.4(MARS1):c.1369-6T>C
NM_004990.4(MARS1):c.1380A>C (p.Arg460=)
NM_004990.4(MARS1):c.1428C>G (p.Pro476=)
NM_004990.4(MARS1):c.1434C>T (p.Ala478=) rs1594832520
NM_004990.4(MARS1):c.144C>A (p.Val48=) rs1018358556
NM_004990.4(MARS1):c.1479C>G (p.Arg493=)
NM_004990.4(MARS1):c.1539+10del rs1877538364
NM_004990.4(MARS1):c.1539+14T>G
NM_004990.4(MARS1):c.1540-16T>C
NM_004990.4(MARS1):c.1560T>C (p.Asp520=)
NM_004990.4(MARS1):c.1581C>T (p.Ser527=) rs2140034173
NM_004990.4(MARS1):c.1635+11C>G rs758827704
NM_004990.4(MARS1):c.1636-16A>G
NM_004990.4(MARS1):c.1636-17T>G
NM_004990.4(MARS1):c.174C>T (p.Tyr58=)
NM_004990.4(MARS1):c.1753+16G>A
NM_004990.4(MARS1):c.1797T>C (p.Gly599=)
NM_004990.4(MARS1):c.180C>T (p.Phe60=) rs148642961
NM_004990.4(MARS1):c.1830G>A (p.Thr610=)
NM_004990.4(MARS1):c.1911C>T (p.Asp637=) rs1208670823
NM_004990.4(MARS1):c.1914G>A (p.Leu638=)
NM_004990.4(MARS1):c.1967+12T>G
NM_004990.4(MARS1):c.1968-10C>T rs773836689
NM_004990.4(MARS1):c.1968-20C>T
NM_004990.4(MARS1):c.1968-6A>C
NM_004990.4(MARS1):c.1998G>A (p.Gly666=)
NM_004990.4(MARS1):c.200+11G>A
NM_004990.4(MARS1):c.200+18G>A
NM_004990.4(MARS1):c.2001C>A (p.Gly667=) rs2140036969
NM_004990.4(MARS1):c.2001C>T (p.Gly667=)
NM_004990.4(MARS1):c.201-16C>T
NM_004990.4(MARS1):c.201-20G>A
NM_004990.4(MARS1):c.2019G>A (p.Val673=)
NM_004990.4(MARS1):c.2079C>T (p.His693=)
NM_004990.4(MARS1):c.2082G>A (p.Gln694=)
NM_004990.4(MARS1):c.2088T>C (p.Leu696=)
NM_004990.4(MARS1):c.2099+12A>T
NM_004990.4(MARS1):c.2099+13C>T
NM_004990.4(MARS1):c.2099+18_2099+19del rs2140037113
NM_004990.4(MARS1):c.2099+9C>T
NM_004990.4(MARS1):c.2100-4C>T rs1253766413
NM_004990.4(MARS1):c.2112C>T (p.Ala704=) rs530730589
NM_004990.4(MARS1):c.2139A>G (p.Arg713=)
NM_004990.4(MARS1):c.2196G>A (p.Glu732=)
NM_004990.4(MARS1):c.2204+19T>C
NM_004990.4(MARS1):c.2205-10T>C
NM_004990.4(MARS1):c.2205-16G>A
NM_004990.4(MARS1):c.2223G>C (p.Val741=)
NM_004990.4(MARS1):c.2230T>C (p.Leu744=)
NM_004990.4(MARS1):c.2235A>C (p.Ala745=) rs2140037595
NM_004990.4(MARS1):c.2256C>T (p.Leu752=)
NM_004990.4(MARS1):c.2262C>T (p.Val754=)
NM_004990.4(MARS1):c.2295C>A (p.Ala765=) rs2140037698
NM_004990.4(MARS1):c.2340C>A (p.Ile780=) rs2140037772
NM_004990.4(MARS1):c.2352C>T (p.Asn784=)
NM_004990.4(MARS1):c.2370A>C (p.Pro790=)
NM_004990.4(MARS1):c.2391+13G>A rs2140037889
NM_004990.4(MARS1):c.2392-12C>A
NM_004990.4(MARS1):c.2392-8T>A rs754886014
NM_004990.4(MARS1):c.2421T>C (p.Asn807=) rs1057523185
NM_004990.4(MARS1):c.2464-12G>A
NM_004990.4(MARS1):c.2464-18A>G
NM_004990.4(MARS1):c.2464-6C>T
NM_004990.4(MARS1):c.2464-9_2464-7del rs757191684
NM_004990.4(MARS1):c.2472G>A (p.Thr824=) rs1594838097
NM_004990.4(MARS1):c.2481G>A (p.Lys827=)
NM_004990.4(MARS1):c.2557-11C>T
NM_004990.4(MARS1):c.2557-12C>A rs189933911
NM_004990.4(MARS1):c.2557-12C>G rs189933911
NM_004990.4(MARS1):c.2557-13C>A rs781643044
NM_004990.4(MARS1):c.2557-13C>G rs781643044
NM_004990.4(MARS1):c.2557-15C>A
NM_004990.4(MARS1):c.2557-8T>C rs2140039581
NM_004990.4(MARS1):c.2574A>G (p.Glu858=) rs2140039637
NM_004990.4(MARS1):c.2577G>C (p.Leu859=) rs1594838549
NM_004990.4(MARS1):c.2619G>C (p.Val873=) rs762100988
NM_004990.4(MARS1):c.2625A>G (p.Lys875=)
NM_004990.4(MARS1):c.2629T>C (p.Leu877=) rs2140039764
NM_004990.4(MARS1):c.2637A>G (p.Leu879=) rs1594838666
NM_004990.4(MARS1):c.2655A>G (p.Val885=) rs1594838715
NM_004990.4(MARS1):c.2679C>T (p.Ala893=)
NM_004990.4(MARS1):c.2694G>A (p.Lys898=)
NM_004990.4(MARS1):c.273G>A (p.Glu91=) rs1386779593
NM_004990.4(MARS1):c.279+17G>A
NM_004990.4(MARS1):c.279+18G>A rs2139997523
NM_004990.4(MARS1):c.280-12C>A
NM_004990.4(MARS1):c.330G>T (p.Gly110=) rs746237960
NM_004990.4(MARS1):c.363G>C (p.Leu121=)
NM_004990.4(MARS1):c.414+11T>C
NM_004990.4(MARS1):c.415-13A>G
NM_004990.4(MARS1):c.415-14T>G
NM_004990.4(MARS1):c.415-9C>T
NM_004990.4(MARS1):c.423A>G (p.Glu141=)
NM_004990.4(MARS1):c.490+19A>G
NM_004990.4(MARS1):c.490+9T>C
NM_004990.4(MARS1):c.491-10A>T rs1252227801
NM_004990.4(MARS1):c.491-15C>T
NM_004990.4(MARS1):c.491-5C>A rs761648454
NM_004990.4(MARS1):c.534C>T (p.Thr178=)
NM_004990.4(MARS1):c.576G>A (p.Gln192=)
NM_004990.4(MARS1):c.615G>A (p.Gln205=)
NM_004990.4(MARS1):c.618C>T (p.Pro206=)
NM_004990.4(MARS1):c.663+14C>T
NM_004990.4(MARS1):c.663+19C>G
NM_004990.4(MARS1):c.663+9T>C
NM_004990.4(MARS1):c.664-12C>T rs1233946450
NM_004990.4(MARS1):c.664-5T>C
NM_004990.4(MARS1):c.770+19T>C
NM_004990.4(MARS1):c.771-10T>G
NM_004990.4(MARS1):c.771-13C>G rs764820016
NM_004990.4(MARS1):c.822C>T (p.Tyr274=)
NM_004990.4(MARS1):c.849C>T (p.Asn283=)
NM_004990.4(MARS1):c.867C>T (p.Leu289=) rs764870776
NM_004990.4(MARS1):c.873C>G (p.Ala291=) rs79531790
NM_004990.4(MARS1):c.887+16C>G rs767628528
NM_004990.4(MARS1):c.887+17G>A rs201259473
NM_004990.4(MARS1):c.887+17G>C rs201259473
NM_004990.4(MARS1):c.888-14A>G
NM_004990.4(MARS1):c.888-17A>G rs762403976
NM_004990.4(MARS1):c.888-5T>C
NM_004990.4(MARS1):c.888-7C>T
NM_004990.4(MARS1):c.918C>T (p.Leu306=)
NM_004990.4(MARS1):c.960C>A (p.Thr320=)
NM_004990.4(MARS1):c.966T>C (p.Ala322=)
NM_004990.4(MARS1):c.972G>A (p.Glu324=)

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