ClinVar Miner

List of variants in gene MATN3 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002381.5(MATN3):c.671G>A (p.Arg224Gln) rs201491595 0.00018
NM_002381.5(MATN3):c.185C>T (p.Ala62Val) rs920755164 0.00016
NM_002381.5(MATN3):c.209G>A (p.Arg70His) rs104893640 0.00012
NM_002381.5(MATN3):c.523A>C (p.Thr175Pro) rs370381391 0.00010
NM_002381.5(MATN3):c.223+8C>A rs993108436 0.00006
NM_002381.5(MATN3):c.284G>A (p.Arg95Gln) rs755692495 0.00002
NM_002381.5(MATN3):c.304G>T (p.Val102Leu) rs199824694 0.00002
NM_002381.5(MATN3):c.150C>T (p.Arg50=) rs1422262650 0.00001
NM_002381.5(MATN3):c.180G>T (p.Ala60=) rs1286340022 0.00001
NM_002381.5(MATN3):c.514G>A (p.Glu172Lys) rs977737529 0.00001
NM_002381.5(MATN3):c.524C>A (p.Thr175Lys) rs1673097664 0.00001
NM_002381.5(MATN3):c.659T>C (p.Val220Ala) rs187943382 0.00001
NM_002381.5(MATN3):c.160C>A (p.Pro54Thr) rs1008273355
NM_002381.5(MATN3):c.197G>C (p.Ser66Thr) rs1673236096
NM_002381.5(MATN3):c.302A>G (p.Lys101Arg)
NM_002381.5(MATN3):c.477C>G (p.Gly159=) rs1673099589
NM_002381.5(MATN3):c.477C>T (p.Gly159=) rs1673099589
NM_002381.5(MATN3):c.526G>T (p.Val176Leu) rs200762092
NM_002381.5(MATN3):c.541C>T (p.Arg181Ter) rs201329777
NM_002381.5(MATN3):c.762T>G (p.Leu254=) rs1673088254
NM_002381.5(MATN3):c.90C>T (p.Pro30=) rs996766896

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.