ClinVar Miner

List of variants in gene MARS1 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (135):
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_004990.4(MARS1):c.1091+2dup rs754216322
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) rs141340466
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr)
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg)
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys)
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala) rs780028144
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu) rs1395622723
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly) rs1408685568
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly)
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile)
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn) rs139600659
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
NM_004990.4(MARS1):c.1968-8C>T rs1209991469
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly)
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.2116C>T (p.Arg706Cys) rs148501787
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)
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.244A>C (p.Asn82His) rs758051760
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) rs200404964
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu) rs138343927
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val) rs773914259
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs) rs1172463219
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn)
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) rs779548081
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val)
NM_004990.4(MARS1):c.330G>T (p.Gly110=)
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) rs201007223
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.652A>G (p.Asn218Asp)
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) rs200334446
NM_004990.4(MARS1):c.692A>T (p.Glu231Val)
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) rs146146070
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro) rs139033078
NM_004990.4(MARS1):c.823G>A (p.Val275Ile) rs1017657436
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
NM_004990.4(MARS1):c.986C>A (p.Pro329His)

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