ClinVar Miner

List of variants in gene MMP2 studied for Multicentric osteolysis nodulosis arthropathy spectrum

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Gene type:
ClinVar version:
Total variants: 108
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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.*260A>C rs7201 0.36871
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.-61G>C rs2287073 0.10610
NM_004530.6(MMP2):c.1842C>G (p.Pro614=) rs11541998 0.07433
NM_004530.6(MMP2):c.750C>T (p.Thr250=) rs1053605 0.05988
NM_004530.6(MMP2):c.832+12C>T rs17859889 0.02723
NM_004530.6(MMP2):c.1098C>T (p.Ala366=) rs16955236 0.02278
NM_004530.6(MMP2):c.*159T>C rs17860019 0.01829
NM_004530.6(MMP2):c.*1062C>T rs2052264 0.01706
NM_004530.6(MMP2):c.1337-7T>C rs17859942 0.01222
NM_004530.6(MMP2):c.1066C>T (p.Leu356=) rs41513346 0.01084
NM_004530.6(MMP2):c.*170G>A rs41280909 0.01029
NM_004530.6(MMP2):c.*183A>G rs111371964 0.01001
NM_004530.6(MMP2):c.*872C>T rs140455191 0.00998
NM_004530.6(MMP2):c.1340C>T (p.Ala447Val) rs17859943 0.00942
NM_004530.6(MMP2):c.1227G>A (p.Met409Ile) rs59727333 0.00635
NM_004530.6(MMP2):c.1802G>T (p.Gly601Val) rs142010233 0.00232
NM_004530.6(MMP2):c.*453C>G rs562314074 0.00154
NM_004530.6(MMP2):c.1861G>C (p.Val621Leu) rs16955280 0.00152
NM_004530.6(MMP2):c.-114G>A rs552672554 0.00139
NM_004530.6(MMP2):c.1858G>A (p.Val620Ile) rs41459945 0.00128
NM_004530.6(MMP2):c.*212C>T rs147506379 0.00127
NM_004530.6(MMP2):c.759C>T (p.Ser253=) rs148801200 0.00108
NM_004530.6(MMP2):c.*523T>C rs141779983 0.00095
NM_004530.6(MMP2):c.*400G>A rs17860021 0.00094
NM_004530.6(MMP2):c.1233G>A (p.Leu411=) rs140172728 0.00088
NM_004530.6(MMP2):c.*132T>A rs55926431 0.00084
NM_004530.6(MMP2):c.496G>A (p.Glu166Lys) rs147947052 0.00081
NM_004530.6(MMP2):c.*93C>T rs112159982 0.00071
NM_004530.6(MMP2):c.658+10G>A rs201653184 0.00069
NM_004530.6(MMP2):c.*111G>A rs111489165 0.00063
NM_004530.6(MMP2):c.96G>T (p.Ser32=) rs146220690 0.00055
NM_004530.6(MMP2):c.1336+11G>A rs17859933 0.00045
NM_004530.6(MMP2):c.1551G>A (p.Pro517=) rs150310143 0.00034
NM_004530.6(MMP2):c.-2C>A rs777848153 0.00027
NM_004530.6(MMP2):c.1860C>T (p.Val620=) rs139606653 0.00025
NM_004530.6(MMP2):c.1769+10G>A rs201956873 0.00024
NM_004530.6(MMP2):c.51C>T (p.Leu17=) rs41503347 0.00022
NM_004530.6(MMP2):c.1572C>T (p.Tyr524=) rs374801798 0.00021
NM_004530.6(MMP2):c.1144G>A (p.Asp382Asn) rs555030156 0.00015
NM_004530.6(MMP2):c.380+6G>A rs373244203 0.00012
NM_004530.6(MMP2):c.344G>T (p.Arg115Leu) rs112710941 0.00011
NM_004530.6(MMP2):c.813C>T (p.Tyr271=) rs182850530 0.00011
NM_004530.6(MMP2):c.*250C>T rs776083935 0.00010
NM_004530.6(MMP2):c.1627T>C (p.Tyr543His) rs369441378 0.00010
NM_004530.6(MMP2):c.1634C>T (p.Ala545Val) rs143247099 0.00010
NM_004530.6(MMP2):c.1685C>T (p.Pro562Leu) rs370764157 0.00010
NM_004530.6(MMP2):c.932C>T (p.Thr311Met) rs572726028 0.00009
NM_004530.6(MMP2):c.*51G>A rs200211639 0.00006
NM_004530.6(MMP2):c.1758C>A (p.Asp586Glu) rs746772419 0.00006
NM_004530.6(MMP2):c.1779G>A (p.Glu593=) rs202060835 0.00006
NM_004530.6(MMP2):c.306C>T (p.Cys102=) rs201679510 0.00006
NM_004530.6(MMP2):c.*43G>A rs751617004 0.00005
NM_004530.6(MMP2):c.*799G>A rs112093666 0.00004
NM_004530.6(MMP2):c.1484G>A (p.Arg495Gln) rs144755357 0.00004
NM_004530.6(MMP2):c.887G>A (p.Arg296His) rs200786490 0.00004
NM_004530.6(MMP2):c.1493C>T (p.Thr498Met) rs764961297 0.00003
NM_004530.6(MMP2):c.*1048C>T rs776889997 0.00002
NM_004530.6(MMP2):c.153+12C>T rs750653987 0.00002
NM_004530.6(MMP2):c.969C>T (p.Tyr323=) rs561800947 0.00002
NM_004530.6(MMP2):c.*853A>G rs539550309 0.00001
NM_004530.6(MMP2):c.1453A>T (p.Ile485Phe) rs141440582 0.00001
NM_004530.6(MMP2):c.1560T>C (p.Ile520=) rs137912216 0.00001
NM_004530.6(MMP2):c.301C>T (p.Arg101Cys) rs1369454759 0.00001
NM_004530.6(MMP2):c.539A>T (p.Asp180Val) rs1057518712 0.00001
NM_004530.6(MMP2):c.658+13C>T rs768031015 0.00001
NM_004530.6(MMP2):c.890T>A (p.Phe297Tyr) rs778881275 0.00001
NM_004530.6(MMP2):c.*1012T>A rs1447267044
NM_004530.6(MMP2):c.*1029G>A rs1962804370
NM_004530.6(MMP2):c.*1204A>G rs758075499
NM_004530.6(MMP2):c.*1204A>T rs758075499
NM_004530.6(MMP2):c.*228C>T rs886052126
NM_004530.6(MMP2):c.*277G>A rs185162550
NM_004530.6(MMP2):c.*498A>G rs886052127
NM_004530.6(MMP2):c.*505T>G rs780960741
NM_004530.6(MMP2):c.*627T>C rs886052129
NM_004530.6(MMP2):c.*642T>C rs771470902
NM_004530.6(MMP2):c.*669C>G rs17860024
NM_004530.6(MMP2):c.*930C>T rs886052130
NM_004530.6(MMP2):c.-147T>A rs1186958598
NM_004530.6(MMP2):c.-201C>G rs886052124
NM_004530.6(MMP2):c.-7C>A rs765195089
NM_004530.6(MMP2):c.1013C>T (p.Ser338Phe) rs1962350616
NM_004530.6(MMP2):c.115G>A (p.Gly39Ser) rs1392610505
NM_004530.6(MMP2):c.1229G>T (p.Gly410Val) rs2142358782
NM_004530.6(MMP2):c.1276A>C (p.Thr426Pro) rs1962415193
NM_004530.6(MMP2):c.1287del (p.Asn430fs) rs794727916
NM_004530.6(MMP2):c.1456TTC[2] (p.Phe488del) rs745677721
NM_004530.6(MMP2):c.1499G>A (p.Arg500His) rs28730814
NM_004530.6(MMP2):c.1567G>T (p.Val523Leu) rs761833659
NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter) rs1962580119
NM_004530.6(MMP2):c.1842C>T (p.Pro614=) rs11541998
NM_004530.6(MMP2):c.306C>A (p.Cys102Ter) rs201679510
NM_004530.6(MMP2):c.377A>G (p.Tyr126Cys) rs1596807866
NM_004530.6(MMP2):c.38C>G (p.Pro13Arg) rs1183157128
NM_004530.6(MMP2):c.474G>A (p.Arg158=) rs144932826
NM_004530.6(MMP2):c.529G>A (p.Glu177Lys) rs1962181218
NM_004530.6(MMP2):c.588C>T (p.Ala196=) rs886052125
NM_004530.6(MMP2):c.628G>T (p.Asp210Tyr) rs1230286710
NM_004530.6(MMP2):c.691G>T (p.Glu231Ter) rs1168427805
NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter) rs121912954
NM_004530.6(MMP2):c.789C>A (p.Tyr263Ter) rs2142349089
NM_004530.6(MMP2):c.910_916del (p.Ser304fs) rs2142353661
NM_004530.6(MMP2):c.920C>T (p.Thr307Ile) rs1962320231

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