ClinVar Miner

List of variants in gene COL9A1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001851.6(COL9A1):c.1288-4T>A rs142431834 0.00315
NM_001851.6(COL9A1):c.138G>A (p.Lys46=) rs139361722 0.00214
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
NM_001851.6(COL9A1):c.1368C>T (p.Leu456=) rs140761349 0.00053
NM_001851.6(COL9A1):c.452A>T (p.Gln151Leu) rs149389568 0.00033
NM_001851.6(COL9A1):c.645T>C (p.Asp215=) rs138147561 0.00007
NM_001851.6(COL9A1):c.1342-14dup rs537445397

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