ClinVar Miner

List of variants in gene MARS1 reported as 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: 29
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HGVS dbSNP gnomAD frequency
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.2209C>A (p.Arg737=) rs139536122 0.00127
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211 0.00083
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415 0.00083
NM_004990.4(MARS1):c.1689C>T (p.Val563=) rs117833843 0.00071
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.901C>T (p.Arg301Cys) rs139661803 0.00052
NM_004990.4(MARS1):c.490+20C>T rs78617675 0.00013
NM_004990.4(MARS1):c.1360C>T (p.Leu454=) rs139002397 0.00010
NM_004990.4(MARS1):c.2478G>A (p.Pro826=) rs149241208 0.00006
NM_004990.4(MARS1):c.415-5del rs781175787 0.00004
NM_004990.4(MARS1):c.1369-11C>T rs377436527 0.00003
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.1539+7del
NM_004990.4(MARS1):c.1967+18del rs1363373533
NM_004990.4(MARS1):c.2112C>T (p.Ala704=) rs530730589
NM_004990.4(MARS1):c.2392-5dup
NM_004990.4(MARS1):c.2392-7_2392-5del rs753118055
NM_004990.4(MARS1):c.2557-12C>G rs189933911
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_004990.4(MARS1):c.887+17G>C rs201259473

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