ClinVar Miner

List of variants in gene MMP2 reported as uncertain significance for obsolete Torg-Winchester syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_004530.6(MMP2):c.-114G>A rs552672554 0.00139
NM_004530.6(MMP2):c.759C>T (p.Ser253=) rs148801200 0.00108
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.658+10G>A rs201653184 0.00069
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.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.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.*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.1567G>T (p.Val523Leu) rs761833659
NM_004530.6(MMP2):c.1842C>T (p.Pro614=) rs11541998
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.588C>T (p.Ala196=) rs886052125
NM_004530.6(MMP2):c.628G>T (p.Asp210Tyr) rs1230286710
NM_004530.6(MMP2):c.920C>T (p.Thr307Ile) rs1962320231

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