ClinVar Miner

List of variants in gene MARS1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004990.4(MARS1):c.1539+36A>G rs1284467 0.97062
NM_004990.4(MARS1):c.1369-132G>C rs747340 0.17869
NM_004990.4(MARS1):c.1369-69A>G rs747339 0.06451
NM_004990.4(MARS1):c.110-26T>A rs55727879 0.03069
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102 0.01123
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165 0.00541
NM_004990.4(MARS1):c.1753+7A>G rs117914586 0.00435
NM_004990.4(MARS1):c.626G>A (p.Ser209Asn) rs141671963 0.00327
NM_004990.4(MARS1):c.2204+11G>A rs202080192 0.00239
NM_004990.4(MARS1):c.280-14C>T rs183195960 0.00223
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297 0.00206
NM_004990.4(MARS1):c.801C>T (p.Leu267=) rs151260441 0.00138
NM_004990.4(MARS1):c.1689C>T (p.Val563=) rs117833843 0.00071
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015 0.00070
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721 0.00068
NM_004990.4(MARS1):c.280-18A>G rs141020578 0.00068
NM_004990.4(MARS1):c.490+14A>G rs74832951 0.00063
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.1388A>G (p.Glu463Gly) rs149432418 0.00031
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.661G>A (p.Glu221Lys) rs200334446 0.00016
NM_004990.4(MARS1):c.110-10C>T rs113549256 0.00011
NM_004990.4(MARS1):c.1360C>T (p.Leu454=) rs139002397 0.00010
NM_004990.4(MARS1):c.771-15C>G rs201328384 0.00008
NM_004990.4(MARS1):c.1540-3C>T rs372013808 0.00006
NM_004990.4(MARS1):c.1995T>C (p.Phe665=) rs1034831965 0.00006
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392 0.00006
NM_004990.4(MARS1):c.1091+2dup rs754216322 0.00005
NM_004990.4(MARS1):c.1209C>T (p.Gly403=) rs746685572 0.00004
NM_004990.4(MARS1):c.1337C>T (p.Ser446Leu) rs562565076 0.00004
NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter) rs768234938 0.00004
NM_004990.4(MARS1):c.854T>C (p.Ile285Thr) rs141105798 0.00004
NM_004990.4(MARS1):c.1369-11C>T rs377436527 0.00003
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261 0.00003
NM_004990.4(MARS1):c.2277C>T (p.Tyr759=) rs377546356 0.00003
NM_004990.4(MARS1):c.2570G>A (p.Arg857Gln) rs1057524849 0.00003
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) rs916967743 0.00002
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171 0.00001
NM_004990.4(MARS1):c.1194C>T (p.Asp398=) rs1057522398 0.00001
NM_004990.4(MARS1):c.1539+12T>G rs1333118087 0.00001
NM_004990.4(MARS1):c.1785_1786insTT (p.Lys596fs) rs746023775 0.00001
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718 0.00001
NM_004990.4(MARS1):c.2464-7T>C rs748573447 0.00001
NM_004990.4(MARS1):c.2612C>T (p.Ala871Val) rs370631429 0.00001
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe) rs776026574 0.00001
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) rs1594821331
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.1389G>A (p.Glu463=) rs1555168194
NM_004990.4(MARS1):c.1427C>A (p.Pro476His) rs752787612
NM_004990.4(MARS1):c.1635+1G>A
NM_004990.4(MARS1):c.1636-4C>T rs1057521247
NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del) rs1555168270
NM_004990.4(MARS1):c.1881G>A (p.Glu627=) rs1555168391
NM_004990.4(MARS1):c.201-10C>T rs1594805977
NM_004990.4(MARS1):c.2204+1G>T rs1555168622
NM_004990.4(MARS1):c.2204+4_2204+7del rs1327486572
NM_004990.4(MARS1):c.2209C>T (p.Arg737Trp) rs139536122
NM_004990.4(MARS1):c.2421T>C (p.Asn807=) rs1057523185
NM_004990.4(MARS1):c.2659G>A (p.Glu887Lys) rs1555168927
NM_004990.4(MARS1):c.319G>A (p.Gly107Ser) rs771299467
NM_004990.4(MARS1):c.490+47G>A rs899653
NM_004990.4(MARS1):c.505C>T (p.Leu169=) rs1555165592
NM_004990.4(MARS1):c.664-12C>T rs1233946450
NM_004990.4(MARS1):c.771-136T>C rs537161
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_004990.4(MARS1):c.887+17G>A rs201259473
NM_004990.4(MARS1):c.985C>G (p.Pro329Ala)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.