ClinVar Miner

List of variants reported as benign for Metaphyseal chondrodysplasia, Schmid type

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000493.4(COL10A1):c.80T>C (p.Met27Thr) rs1064583 0.47609
NM_000493.4(COL10A1):c.1633G>C (p.Gly545Arg) rs2228547 0.16401
NM_000493.4(COL10A1):c.*1026G>A rs1059277 0.05194
NM_000493.4(COL10A1):c.1809G>C (p.Val603=) rs2228548 0.04519
NM_000493.4(COL10A1):c.*416G>A rs78400291 0.03210
NM_000493.4(COL10A1):c.*246T>C rs149788553 0.02024
NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg) rs142411445 0.00438
NM_000493.4(COL10A1):c.1851T>C (p.Asn617=) rs61745148 0.00330
NM_000493.4(COL10A1):c.625G>A (p.Gly209Ser) rs146114911 0.00329
NM_000493.4(COL10A1):c.*1042A>G rs150549737 0.00319
NM_000493.4(COL10A1):c.*790T>G rs190088189 0.00314
NM_000493.4(COL10A1):c.*196T>C rs182209892 0.00310
NM_000493.4(COL10A1):c.*653T>C rs186316373 0.00290
NM_000493.4(COL10A1):c.593G>A (p.Arg198His) rs148785195 0.00200
NM_000493.4(COL10A1):c.*1106G>A rs141732719 0.00166
NM_000493.4(COL10A1):c.*1025C>T rs139574236 0.00163
NM_000493.4(COL10A1):c.*315A>T rs566937288 0.00134
NM_000493.4(COL10A1):c.*317T>A rs553227989 0.00130
NM_000493.4(COL10A1):c.154+13G>C rs187987567 0.00121
NM_000493.4(COL10A1):c.382G>A (p.Asp128Asn) rs142463796 0.00121
NM_000493.4(COL10A1):c.43T>G (p.Leu15Val) rs147612968 0.00091
NM_000493.4(COL10A1):c.*157A>G rs117424376 0.00045
NM_000493.4(COL10A1):c.1181C>G (p.Pro394Arg) rs201458750 0.00022
NM_000493.4(COL10A1):c.1147G>A (p.Gly383Arg) rs145378345 0.00021
NM_000493.4(COL10A1):c.1350T>C (p.Thr450=) rs139846596 0.00021
NM_000493.4(COL10A1):c.924A>C (p.Gly308=) rs374250798 0.00010
NM_000493.4(COL10A1):c.158T>G (p.Ile53Arg) rs200692352 0.00007
NM_000493.4(COL10A1):c.*151C>A rs534102410 0.00004
NM_000493.4(COL10A1):c.1806C>T (p.His602=) rs753033965 0.00004
NM_000493.4(COL10A1):c.1875T>C (p.Tyr625=) rs748777581 0.00004
NM_000493.4(COL10A1):c.2040G>C (p.Met680Ile) rs200235459 0.00004
NM_000493.4(COL10A1):c.273A>G (p.Gln91=) rs547224731 0.00004
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) rs765628474 0.00003
NM_000493.4(COL10A1):c.*6_*7insCCC rs140722
NM_000493.4(COL10A1):c.773G>A (p.Arg258Gln) rs144479322

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.