ClinVar Miner

List of variants in gene MMP2 reported as pathogenic for Multicentric osteolysis, nodulosis, and arthropathy

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Total variants: 9
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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.1199_1201del (p.Val400del) rs2142358692
NM_004530.6(MMP2):c.1210G>A (p.Glu404Lys) rs121912955
NM_004530.6(MMP2):c.1287del (p.Asn430fs) rs794727916
NM_004530.6(MMP2):c.1289del (p.Asn430fs) rs2142358933
NM_004530.6(MMP2):c.1357del (p.Gly454fs) rs1567378779
NM_004530.6(MMP2):c.302G>A (p.Arg101His) rs121912953
NM_004530.6(MMP2):c.348del (p.Lys116fs)
NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter) rs121912954

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