ClinVar Miner

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

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000493.4(COL10A1):c.*318A>T rs566235360 0.00059
NM_000493.4(COL10A1):c.155-6T>C rs375384269 0.00034
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.*328del rs371155563
NM_000493.4(COL10A1):c.*328dup rs371155563
NM_000493.4(COL10A1):c.*52C>T rs1326936448
NM_000493.4(COL10A1):c.*674A>G rs886060988
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.1952G>A (p.Trp651Ter) rs1779066482
NM_000493.4(COL10A1):c.1952G>T (p.Trp651Leu)
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.721G>C (p.Gly241Arg)
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

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