ClinVar Miner

List of variants in gene COL9A3 reported as uncertain significance for Inborn genetic diseases

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.1258C>G (p.Gln420Glu) rs138648117 0.00029
NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro) rs145821912 0.00028
NM_001853.4(COL9A3):c.1730G>A (p.Arg577Gln) rs140377811 0.00016
NM_001853.4(COL9A3):c.1663C>T (p.Arg555Trp) rs201783992 0.00013
NM_001853.4(COL9A3):c.1735C>A (p.Pro579Thr) rs758064613 0.00013
NM_001853.4(COL9A3):c.1621G>A (p.Ala541Thr) rs201572795 0.00011
NM_001853.4(COL9A3):c.413G>A (p.Arg138His) rs199846937 0.00011
NM_001853.4(COL9A3):c.1339G>A (p.Asp447Asn) rs200153638 0.00010
NM_001853.4(COL9A3):c.1007C>T (p.Pro336Leu) rs200305586 0.00004
NM_001853.4(COL9A3):c.700C>G (p.Arg234Gly) rs1027769042 0.00004
NM_001853.4(COL9A3):c.86G>T (p.Gly29Val) rs958612540 0.00003
NM_001853.4(COL9A3):c.722G>C (p.Gly241Ala) rs991678832 0.00002
NM_001853.4(COL9A3):c.25C>T (p.Pro9Ser) rs1391056058 0.00001
NM_001853.4(COL9A3):c.715C>A (p.Pro239Thr) rs756709681 0.00001
NM_001853.4(COL9A3):c.1625C>T (p.Ala542Val)
NM_001853.4(COL9A3):c.1691C>T (p.Pro564Leu)
NM_001853.4(COL9A3):c.1694C>T (p.Pro565Leu)
NM_001853.4(COL9A3):c.1840C>T (p.Pro614Ser)
NM_001853.4(COL9A3):c.1886C>A (p.Thr629Asn)
NM_001853.4(COL9A3):c.457C>T (p.Pro153Ser)
NM_001853.4(COL9A3):c.488G>A (p.Gly163Glu)
NM_001853.4(COL9A3):c.548C>T (p.Pro183Leu)
NM_001853.4(COL9A3):c.583A>G (p.Thr195Ala) rs746531996
NM_001853.4(COL9A3):c.5C>A (p.Ala2Asp)
NM_001853.4(COL9A3):c.634G>A (p.Asp212Asn)
NM_001853.4(COL9A3):c.637C>G (p.Pro213Ala)
NM_001853.4(COL9A3):c.665C>G (p.Pro222Arg) rs202005710
NM_001853.4(COL9A3):c.665C>T (p.Pro222Leu) rs202005710
NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter) rs1027769042
NM_001853.4(COL9A3):c.883G>A (p.Gly295Arg)
NM_001853.4(COL9A3):c.967C>T (p.Arg323Cys)
NM_001853.4(COL9A3):c.973G>C (p.Gly325Arg)
NM_001853.4(COL9A3):c.992G>T (p.Gly331Val)

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