ClinVar Miner

List of variants in gene combination COL10A1, NT5DC1 reported as benign for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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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.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.*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.*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

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