ClinVar Miner

List of variants in gene COL9A3 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.93C>A (p.Pro31=) rs2273078 0.11502
NM_001853.4(COL9A3):c.546C>T (p.Pro182=) rs150148851 0.00734
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483 0.00231
NM_001853.4(COL9A3):c.237G>A (p.Pro79=) rs141960487 0.00142
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr) rs142792529

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