ClinVar Miner

List of variants in gene COL10A1, NT5DC1 studied for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
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.*13del rs201694987 0.04951
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.23T>G (p.Leu8Trp) rs34539681 0.00329
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.*833T>C rs186945460 0.00259
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.*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.*315A>T rs566937288 0.00084
NM_000493.4(COL10A1):c.256G>A (p.Gly86Arg) rs145214720 0.00068
NM_000493.4(COL10A1):c.*318A>T rs566235360 0.00059
NM_000493.4(COL10A1):c.*157A>G rs117424376 0.00045
NM_000493.4(COL10A1):c.155-6T>C rs375384269 0.00034
NM_000493.4(COL10A1):c.*291C>T rs550887467 0.00025
NM_000493.4(COL10A1):c.-16+7G>A rs768097903 0.00024
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.*1038C>T rs1053741863 0.00011
NM_000493.4(COL10A1):c.924A>C (p.Gly308=) rs374250798 0.00010
NM_000493.4(COL10A1):c.1144C>T (p.Pro382Ser) rs1247147548 0.00007
NM_000493.4(COL10A1):c.158T>G (p.Ile53Arg) rs200692352 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.*151C>A rs534102410 0.00004
NM_000493.4(COL10A1):c.*455T>C rs1024360405 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.2038A>G (p.Met680Val) rs145003921 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.*900G>A rs1025790263 0.00003
NM_000493.4(COL10A1):c.1611C>T (p.Thr537=) rs199714647 0.00003
NM_000493.4(COL10A1):c.456T>C (p.Ile152=) rs572738023 0.00003
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) rs765628474 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.1349C>A (p.Thr450Asn) rs374996283 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.1759G>A (p.Gly587Arg) rs770624113 0.00001
NM_000493.4(COL10A1):c.212G>A (p.Arg71Gln) rs199761751 0.00001
NM_000493.4(COL10A1):c.381A>T (p.Gly127=) rs139239316 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.*315dup rs530914126
NM_000493.4(COL10A1):c.*324A>G rs922577505
NM_000493.4(COL10A1):c.*328del rs371155563
NM_000493.4(COL10A1):c.*328dup rs371155563
NM_000493.4(COL10A1):c.*52C>T rs1326936448
NM_000493.4(COL10A1):c.*553del rs201240595
NM_000493.4(COL10A1):c.*674A>G rs886060988
NM_000493.4(COL10A1):c.*6_*7insCCC rs140722
NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp) rs1403393545
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.1472C>T (p.Pro491Leu)
NM_000493.4(COL10A1):c.1637T>A (p.Val546Glu) rs2114279867
NM_000493.4(COL10A1):c.1705A>G (p.Ile569Val) rs1779078261
NM_000493.4(COL10A1):c.1771T>C (p.Cys591Arg) rs111033546
NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly) rs111033546
NM_000493.4(COL10A1):c.1772G>A (p.Cys591Tyr) rs2114278741
NM_000493.4(COL10A1):c.1772G>T (p.Cys591Phe) rs2114278741
NM_000493.4(COL10A1):c.1775dup (p.Ile593fs) rs2114278703
NM_000493.4(COL10A1):c.1784G>A (p.Gly595Glu) rs111033553
NM_000493.4(COL10A1):c.1790A>G (p.Tyr597Cys) rs111033554
NM_000493.4(COL10A1):c.1792T>G (p.Tyr598Asp) rs111033544
NM_000493.4(COL10A1):c.1798T>C (p.Ser600Pro) rs111033555
NM_000493.4(COL10A1):c.1832G>A (p.Trp611Ter) rs111033556
NM_000493.4(COL10A1):c.1833G>A (p.Trp611Ter)
NM_000493.4(COL10A1):c.1841T>C (p.Leu614Pro) rs111033545
NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp) rs1779072705
NM_000493.4(COL10A1):c.1853_1866del (p.Gly618fs) rs2114277790
NM_000493.4(COL10A1):c.1857_1869del (p.Val621fs)
NM_000493.4(COL10A1):c.1858_1859del (p.Pro620fs) rs1562122372
NM_000493.4(COL10A1):c.1859del (p.Pro620fs) rs1562122372
NM_000493.4(COL10A1):c.1867_1876del (p.Tyr623fs) rs2114277685
NM_000493.4(COL10A1):c.1884C>G (p.Tyr628Ter) rs111033543
NM_000493.4(COL10A1):c.1896C>A (p.Tyr632Ter) rs111033548
NM_000493.4(COL10A1):c.1900del (p.Asp634fs)
NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del) rs1582811858
NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg) rs111033549
NM_000493.4(COL10A1):c.1951_1952dup (p.Trp651fs) rs2114276983
NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter) rs1779066482
NM_000493.4(COL10A1):c.1952G>T (p.Trp651Leu)
NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter) rs111033547
NM_000493.4(COL10A1):c.1955T>G (p.Leu652Arg) rs2114276916
NM_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs) rs1779066131
NM_000493.4(COL10A1):c.1989C>A (p.Tyr663Ter) rs2114276588
NM_000493.4(COL10A1):c.1989C>G (p.Tyr663Ter) rs2114276588
NM_000493.4(COL10A1):c.1994_1995del (p.Ser664_Ser665insTer) rs1779064401
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) rs111033552
NM_000493.4(COL10A1):c.460G>A (p.Val154Met) rs886060993
NM_000493.4(COL10A1):c.52G>A (p.Gly18Arg) rs111033550
NM_000493.4(COL10A1):c.53G>A (p.Gly18Glu) rs111033551
NM_000493.4(COL10A1):c.60T>C (p.Phe20=) rs777324834
NM_000493.4(COL10A1):c.721G>C (p.Gly241Arg)
NM_000493.4(COL10A1):c.773G>A (p.Arg258Gln) rs144479322
NM_000493.4(COL10A1):c.80T>G (p.Met27Arg) rs1064583
NM_000493.4(COL10A1):c.865A>G (p.Ile289Val)
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.