ClinVar Miner

List of variants studied for Multicentric osteolysis nodulosis arthropathy spectrum by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004530.6(MMP2):c.301C>T (p.Arg101Cys) rs1369454759 0.00001
NM_004530.6(MMP2):c.1229G>T (p.Gly410Val) rs2142358782
NM_004530.6(MMP2):c.1287del (p.Asn430fs) rs794727916
NM_004530.6(MMP2):c.306C>A (p.Cys102Ter) rs201679510
NM_004530.6(MMP2):c.789C>A (p.Tyr263Ter) rs2142349089
NM_004530.6(MMP2):c.910_916del (p.Ser304fs) rs2142353661

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