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: 28
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_001851.6(COL9A1):c.1666-32G>A rs72923190 0.00751
NM_001851.6(COL9A1):c.1197+11T>C rs73745357 0.00388
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001851.6(COL9A1):c.1395+14T>A rs367801990 0.00323
NM_001851.6(COL9A1):c.1288-4T>A rs142431834 0.00315
NM_001851.6(COL9A1):c.1089+9C>G rs142247988 0.00221
NM_001851.6(COL9A1):c.138G>A (p.Lys46=) rs139361722 0.00214
NM_001851.6(COL9A1):c.299+14A>C rs138522232 0.00214
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_001851.6(COL9A1):c.1288-9A>G rs181039243 0.00133
NM_001851.6(COL9A1):c.801+11G>C rs200305129 0.00113
NM_001851.6(COL9A1):c.1720-11T>C rs374054294 0.00081
NM_001851.6(COL9A1):c.2113-19G>A rs187218937 0.00076
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=) rs75433477 0.00067
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu) rs138583508 0.00031
NM_001851.6(COL9A1):c.1569T>A (p.Gly523=) rs150970524 0.00027
NM_001851.6(COL9A1):c.795C>G (p.Thr265=) rs149067801 0.00019
NM_001851.6(COL9A1):c.831C>A (p.Pro277=) rs145800598 0.00017
NM_001851.6(COL9A1):c.1992T>G (p.Gly664=) rs138810927 0.00011
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val) rs186444567 0.00009
NM_001851.6(COL9A1):c.1504-19A>C rs377339892 0.00007
NM_001851.6(COL9A1):c.166+5G>A rs544432669 0.00005
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.1342-14dup rs537445397
NM_001851.6(COL9A1):c.1342-27CTTTT[3] rs543377381
NM_001851.6(COL9A1):c.1665+13A>T rs748805630

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