ClinVar Miner

List of variants studied for Multicentric osteolysis nodulosis arthropathy spectrum by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004530.6(MMP2):c.1149T>C (p.Asp383=) rs243849 0.80135
NM_004530.6(MMP2):c.1770-4A>G rs243834 0.44856
NM_004530.6(MMP2):c.1806C>T (p.Phe602=) rs14070 0.36635
NM_004530.6(MMP2):c.1380G>A (p.Thr460=) rs2287074 0.36020
NM_004530.6(MMP2):c.678G>C (p.Gly226=) rs1132896 0.26147
NM_004530.6(MMP2):c.750C>T (p.Thr250=) rs1053605 0.05988

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