ClinVar Miner

List of variants in gene MARS1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 11
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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.1753+7A>G rs117914586 0.00435
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721 0.00068
NM_004990.4(MARS1):c.792G>A (p.Arg264=) rs141609469 0.00040
NM_004990.4(MARS1):c.1284C>T (p.Val428=) rs752350446 0.00005
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.147T>C (p.Pro49=) rs1875707453
NM_004990.4(MARS1):c.2481G>A (p.Lys827=)
NM_004990.4(MARS1):c.738T>C (p.Ser246=) rs1594808001
NM_004990.4(MARS1):c.849C>T (p.Asn283=)

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