ClinVar Miner

List of variants in gene COL9A1 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001851.6(COL9A1):c.876+2dup rs672601329 0.00030
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu) rs145207010 0.00016
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser) rs199581593 0.00006
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val) rs781246762 0.00002
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu) rs757218488 0.00002
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser) rs578034223 0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys) rs571441243 0.00001
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu) rs767995228

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