ClinVar Miner

List of variants reported as uncertain significance for amelogenesis imperfecta hypomaturation type 2A2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP
NM_004771.4(MMP20):c.*110A>T rs886047544
NM_004771.4(MMP20):c.*268T>C
NM_004771.4(MMP20):c.*299G>A
NM_004771.4(MMP20):c.*412G>A
NM_004771.4(MMP20):c.*427A>T
NM_004771.4(MMP20):c.*481A>G
NM_004771.4(MMP20):c.*484T>C rs531522695
NM_004771.4(MMP20):c.103A>C (p.Arg35=)
NM_004771.4(MMP20):c.1053C>T (p.Tyr351=)
NM_004771.4(MMP20):c.1108A>G (p.Thr370Ala)
NM_004771.4(MMP20):c.1136C>T (p.Pro379Leu) rs149589493
NM_004771.4(MMP20):c.1219C>T (p.Leu407Phe) rs150191942
NM_004771.4(MMP20):c.1247+8T>C rs886047545
NM_004771.4(MMP20):c.127-14C>A
NM_004771.4(MMP20):c.1287A>G (p.Pro429=)
NM_004771.4(MMP20):c.1296T>C (p.Thr432=)
NM_004771.4(MMP20):c.1313G>C (p.Gly438Ala) rs61753770
NM_004771.4(MMP20):c.1366T>C (p.Phe456Leu)
NM_004771.4(MMP20):c.1418G>A (p.Ser473Asn)
NM_004771.4(MMP20):c.1422G>A (p.Val474=) rs373697258
NM_004771.4(MMP20):c.1424T>C (p.Val475Ala)
NM_004771.4(MMP20):c.1430C>G (p.Ser477Cys) rs766621123
NM_004771.4(MMP20):c.183T>C (p.Val61=)
NM_004771.4(MMP20):c.254G>A (p.Gly85Glu) rs200482846
NM_004771.4(MMP20):c.274A>G (p.Met92Val) rs61730848
NM_004771.4(MMP20):c.289A>T (p.Lys97Ter) rs367552668
NM_004771.4(MMP20):c.372C>T (p.Tyr124=)
NM_004771.4(MMP20):c.375-10G>A
NM_004771.4(MMP20):c.375-11C>T rs538004005
NM_004771.4(MMP20):c.383A>C (p.Lys128Thr) rs61753771
NM_004771.4(MMP20):c.453C>T (p.Ser151=)
NM_004771.4(MMP20):c.454G>A (p.Ala152Thr) rs370166894
NM_004771.4(MMP20):c.641G>C (p.Gly214Ala)
NM_004771.4(MMP20):c.644C>T (p.Thr215Met)
NM_004771.4(MMP20):c.666C>T (p.Thr222=) rs763757159
NM_004771.4(MMP20):c.667G>A (p.Val223Ile)
NM_004771.4(MMP20):c.66A>G (p.Ala22=)
NM_004771.4(MMP20):c.67G>A (p.Ala23Thr)
NM_004771.4(MMP20):c.711C>T (p.Ser237=)
NM_004771.4(MMP20):c.723A>G (p.Ser241=) rs139717539
NM_004771.4(MMP20):c.757C>T (p.Pro253Ser) rs138853084
NM_004771.4(MMP20):c.808T>C (p.Tyr270His) rs778890652
NM_004771.4(MMP20):c.855C>A (p.Ala285=)
NM_004771.4(MMP20):c.870A>T (p.Pro290=) rs17098831
NM_004771.4(MMP20):c.883C>G (p.Leu295Val) rs146876571
NM_004771.4(MMP20):c.910G>A (p.Ala304Thr) rs148818720
NM_004771.4(MMP20):c.92C>T (p.Pro31Leu) rs61730847
NM_004771.4(MMP20):c.954-2A>T rs140213840

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.