ClinVar Miner

List of variants in gene COL9A2 reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.977A>G (p.Gln326Arg) rs2228564 0.29671
NM_001852.4(COL9A2):c.630+13G>T rs3737815 0.14424
NM_001852.4(COL9A2):c.1003C>G (p.Leu335Val) rs2228567 0.09793
NM_001852.4(COL9A2):c.364-20A>G rs78091688 0.08404
NM_001852.4(COL9A2):c.1793-17T>C rs6674856 0.07350
NM_001852.4(COL9A2):c.1368+16A>G rs6684531 0.07104
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_001852.4(COL9A2):c.738+10T>C rs56326652 0.04354
NM_001852.4(COL9A2):c.1062G>A (p.Pro354=) rs6676013 0.03985
NM_001852.4(COL9A2):c.792+16C>T rs77550258 0.03883
NM_001852.4(COL9A2):c.1161+10T>A rs117563156 0.02847
NM_001852.4(COL9A2):c.1288-12C>T rs77695700 0.02575
NM_001852.4(COL9A2):c.364-8C>T rs11207843 0.02379
NM_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_001852.4(COL9A2):c.364-16A>C rs1979785

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