ClinVar Miner

Variants in gene COL18A1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.107-12210C>G rs201773944 0.00068
NM_001379500.1(COL18A1):c.1882G>A (p.Ala628Thr) rs181012655 0.00066
NM_001379500.1(COL18A1):c.107-12197G>A rs200284308 0.00063
NM_001379500.1(COL18A1):c.1687G>A (p.Ala563Thr) rs201476017 0.00029
NM_001379500.1(COL18A1):c.1452G>T (p.Arg484=) rs373106775 0.00021
NM_001379500.1(COL18A1):c.1248G>A (p.Pro416=) rs185296216 0.00012
NM_001379500.1(COL18A1):c.2214C>T (p.Pro738=) rs199910738 0.00009
NM_001379500.1(COL18A1):c.651+17C>T rs578202936 0.00007
NM_001379500.1(COL18A1):c.651+6C>G rs755778352 0.00004
NM_001379500.1(COL18A1):c.1221+12C>T rs765348415 0.00003
NM_001379500.1(COL18A1):c.107-12491C>T rs749001958 0.00001
NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT rs1555853999
NM_001379500.1(COL18A1):c.107-12195G>A rs62000960
NM_001379500.1(COL18A1):c.156G>A (p.Pro52=)
NM_001379500.1(COL18A1):c.1675-3C>T
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3]) rs764710670
NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)

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