ClinVar Miner

List of variants in gene MARS1 reported as likely benign for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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NM_004990.4(MARS1):c.1095C>T (p.Ile365=) rs1555167079
NM_004990.4(MARS1):c.110-10C>T rs113549256
NM_004990.4(MARS1):c.132C>T (p.Thr44=) rs1555165361
NM_004990.4(MARS1):c.1369-7A>C rs377050640
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995
NM_004990.4(MARS1):c.2204+10C>T rs376636502
NM_004990.4(MARS1):c.2256C>G (p.Leu752=) rs201540140
NM_004990.4(MARS1):c.2472G>A (p.Thr824=)
NM_004990.4(MARS1):c.2491G>A (p.Val831Ile)
NM_004990.4(MARS1):c.2613G>A (p.Ala871=) rs373439522
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015
NM_004990.4(MARS1):c.415-5C>A rs747351446
NM_004990.4(MARS1):c.496C>T (p.Leu166=)
NM_004990.4(MARS1):c.630C>T (p.Pro210=)
NM_004990.4(MARS1):c.663+8A>C rs199843552
NM_004990.4(MARS1):c.680C>T (p.Thr227Ile)
NM_004990.4(MARS1):c.747G>A (p.Pro249=) rs200490364
NM_004990.4(MARS1):c.831T>C (p.Asn277=) rs367995771
NM_004990.4(MARS1):c.915C>T (p.Thr305=) rs199641659

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