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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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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.1357del (p.Gly454fs)	rs1567378779
NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter)	rs1962580119
NM_004530.6(MMP2):c.302G>A (p.Arg101His)	rs121912953
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

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