ClinVar Miner

List of variants in gene MARS2 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
MARS2, DUP2
NM_138395.4(MARS2):c.682_949del (p.Gly228fs) rs1553608221

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