ClinVar Miner

Variants in gene COL9A2 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: 21
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_001852.4(COL9A2):c.364-8C>T rs11207843 0.02379
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met) rs2228565 0.02212
NM_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_001852.4(COL9A2):c.363+20G>A rs140071740 0.00434
NM_001852.4(COL9A2):c.1870+9T>C rs139929272 0.00406
NM_001852.4(COL9A2):c.1323+18T>G rs186166446 0.00363
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524 0.00205
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834 0.00195
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235 0.00168
NM_001852.4(COL9A2):c.250-7T>C rs146943340 0.00165
NM_001852.4(COL9A2):c.151-8T>C rs144162904 0.00105
NM_001852.4(COL9A2):c.364-13C>T rs201709352 0.00090
NM_001852.4(COL9A2):c.249+19G>A rs117844512 0.00021
NM_001852.4(COL9A2):c.1962G>T (p.Leu654=) rs142867960 0.00019
NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met) rs567504204 0.00011
NM_001852.4(COL9A2):c.1604-26CTCC[5] rs3831927
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001852.4(COL9A2):c.519+39del rs137881116

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