ClinVar Miner

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

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Total variants: 20
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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.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.876+2dup rs672601329 0.00030
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_001851.6(COL9A1):c.645T>C (p.Asp215=) rs138147561 0.00007
NM_001851.6(COL9A1):c.2348G>A (p.Arg783His) rs375684014 0.00006
NM_001851.6(COL9A1):c.2456C>T (p.Pro819Leu) rs144581626 0.00001
NM_001851.6(COL9A1):c.88+7G>C rs755501266 0.00001
NC_000006.12:g.70281005GGGGGGCCC[3] rs747511400
NM_001851.6(COL9A1):c.1342-14dup rs537445397
NM_001851.6(COL9A1):c.1673C>T (p.Pro558Leu)
NM_001851.6(COL9A1):c.188del (p.Phe63fs) rs1057519130
NM_001851.6(COL9A1):c.1942C>G (p.Pro648Ala)
NM_001851.6(COL9A1):c.1965dup (p.Pro656fs) rs1064797325
NM_001851.6(COL9A1):c.1970dup (p.Gly658fs) rs1322800124
NM_001851.6(COL9A1):c.729C>T (p.Asp243=) rs2127599903
NM_001851.6(COL9A1):c.799G>T (p.Glu267Ter) rs1034243338

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