ClinVar Miner

Variants in gene MARS1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015 0.00070
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) rs200334446 0.00016
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) rs141340466 0.00011
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly) rs778753999 0.00007
NM_004990.4(MARS1):c.1540-3C>T rs372013808 0.00006
NM_004990.4(MARS1):c.747G>A (p.Pro249=) rs200490364 0.00004
NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile) rs1173899198 0.00001
NM_004990.4(MARS1):c.212del (p.Leu71fs) rs751080704

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