ClinVar Miner

List of variants in gene combination COL10A1, NT5DC1 reported as likely benign for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000493.4(COL10A1):c.*13del rs201694987 0.04951
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.*833T>C rs186945460 0.00259
NM_000493.4(COL10A1):c.256G>A (p.Gly86Arg) rs145214720 0.00068
NM_000493.4(COL10A1):c.*291C>T rs550887467 0.00025
NM_000493.4(COL10A1):c.2038A>G (p.Met680Val) rs145003921 0.00004
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.1349C>A (p.Thr450Asn) rs374996283 0.00002
NM_000493.4(COL10A1):c.1759G>A (p.Gly587Arg) rs770624113 0.00001
NM_000493.4(COL10A1):c.381A>T (p.Gly127=) rs139239316 0.00001
NM_000493.4(COL10A1):c.*315dup rs530914126
NM_000493.4(COL10A1):c.*553del rs201240595

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