ClinVar Miner

List of variants in gene COL9A3 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_001853.4(COL9A3):c.309+11G>A rs146033082 0.00541
NM_001853.4(COL9A3):c.2010C>T (p.Ala670=) rs34911725 0.00408
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys) rs553583384 0.00089
NM_001853.4(COL9A3):c.346-19C>T rs199940406 0.00029
NM_001853.4(COL9A3):c.1906G>A (p.Gly636Ser) rs34990115 0.00006
NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu) rs768298010 0.00004
NM_001853.4(COL9A3):c.1747C>T (p.Arg583Cys) rs778892188 0.00002
NM_001853.4(COL9A3):c.577-20G>A rs928285792 0.00002
NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr) rs948698664 0.00001
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001853.4(COL9A3):c.1775C>T (p.Pro592Leu) rs1432126169
NM_001853.4(COL9A3):c.792+19G>A rs115466848

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