ClinVar Miner

List of variants reported as uncertain significance for Schmid metaphyseal chondrodysplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000493.4(COL10A1):c.*318A>T rs566235360 0.00059
NM_000493.4(COL10A1):c.-16+7G>A rs768097903 0.00024
NM_000493.4(COL10A1):c.*1038C>T rs1053741863 0.00011
NM_000493.4(COL10A1):c.1144C>T (p.Pro382Ser) rs1247147548 0.00007
NM_000493.4(COL10A1):c.357G>C (p.Glu119Asp) rs149987585 0.00007
NM_000493.4(COL10A1):c.*137C>T rs746478358 0.00006
NM_000493.4(COL10A1):c.430C>T (p.Pro144Ser) rs752540751 0.00006
NM_000493.4(COL10A1):c.*455T>C rs1024360405 0.00004
NM_000493.4(COL10A1):c.*900G>A rs1025790263 0.00003
NM_000493.4(COL10A1):c.*511T>C rs886060989 0.00002
NM_000493.4(COL10A1):c.1016C>T (p.Pro339Leu) rs373185008 0.00002
NM_000493.4(COL10A1):c.1420C>T (p.Pro474Ser) rs886060991 0.00002
NM_000493.4(COL10A1):c.323C>G (p.Pro108Arg) rs756683554 0.00002
NM_000493.4(COL10A1):c.*1085G>A rs1182559215 0.00001
NM_000493.4(COL10A1):c.*185T>G rs986876434 0.00001
NM_000493.4(COL10A1):c.*428G>A rs930178504 0.00001
NM_000493.4(COL10A1):c.*572T>C rs1428601951 0.00001
NM_000493.4(COL10A1):c.1073C>T (p.Pro358Leu) rs372281591 0.00001
NM_000493.4(COL10A1):c.1328G>A (p.Gly443Asp) rs539549311 0.00001
NM_000493.4(COL10A1):c.212G>A (p.Arg71Gln) rs199761751 0.00001
NM_000493.4(COL10A1):c.567G>A (p.Gly189=) rs201737018 0.00001
NM_000493.4(COL10A1):c.633A>G (p.Thr211=) rs886060992 0.00001
NM_000493.4(COL10A1):c.71G>A (p.Arg24Gln) rs766938257 0.00001
NM_000493.4(COL10A1):c.*1145A>G rs1779023877
NM_000493.4(COL10A1):c.*292A>G rs1016161969
NM_000493.4(COL10A1):c.*324A>G rs922577505
NM_000493.4(COL10A1):c.*52C>T rs1326936448
NM_000493.4(COL10A1):c.*674A>G rs886060988
NM_000493.4(COL10A1):c.1255G>A (p.Gly419Ser) rs369941065
NM_000493.4(COL10A1):c.1267C>T (p.Pro423Ser) rs759211032
NM_000493.4(COL10A1):c.460G>A (p.Val154Met) rs886060993
NM_000493.4(COL10A1):c.60T>C (p.Phe20=) rs777324834
NM_000493.4(COL10A1):c.80T>G (p.Met27Arg) rs1064583
NM_000493.4(COL10A1):c.982G>A (p.Ala328Thr) rs762743318

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.