ClinVar Miner

Variants in gene COL9A1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP
NM_001851.5(COL9A1):c.1066-3T>C rs16868869
NM_001851.5(COL9A1):c.1071T>C (p.Arg357=) rs607156
NM_001851.5(COL9A1):c.1197+11T>C rs73745357
NM_001851.5(COL9A1):c.1230+12T>C rs6935778
NM_001851.5(COL9A1):c.1288-4T>A rs142431834
NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858
NM_001851.5(COL9A1):c.138G>A (p.Lys46=) rs139361722
NM_001851.5(COL9A1):c.1504-14T>A rs537940
NM_001851.5(COL9A1):c.1569T>A (p.Gly523=) rs150970524
NM_001851.5(COL9A1):c.1656T>C (p.Pro552=) rs80251646
NM_001851.5(COL9A1):c.1666-32G>A rs72923190
NM_001851.5(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.5(COL9A1):c.2271G>A (p.Pro757=) rs2072650
NM_001851.5(COL9A1):c.2299A>G (p.Met767Val) rs6910140
NM_001851.5(COL9A1):c.2470C>A (p.Pro824Thr) rs34119578
NM_001851.5(COL9A1):c.876+13C>T rs117215769
NM_001851.5(COL9A1):c.89-12T>C rs12210123
NM_001851.5(COL9A1):c.904G>A (p.Gly302Ser) rs151129325

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