ClinVar Miner

List of variants in gene COL9A3 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 35
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HGVS dbSNP gnomAD frequency
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.19T>A (p.Cys7Ser) rs770930161 0.00129
NM_001853.4(COL9A3):c.891C>T (p.Ser297=) rs142412708 0.00116
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.847-16C>T rs188924459 0.00069
NM_001853.4(COL9A3):c.873C>T (p.Pro291=) rs201808719 0.00046
NM_001853.4(COL9A3):c.1749C>T (p.Arg583=) rs144216578 0.00039
NM_001853.4(COL9A3):c.1977G>A (p.Pro659=) rs151053308 0.00038
NM_001853.4(COL9A3):c.333G>A (p.Pro111=) rs149690829 0.00025
NM_001853.4(COL9A3):c.1876G>A (p.Val626Met) rs146407922 0.00016
NM_001853.4(COL9A3):c.657C>T (p.Ala219=) rs144189627 0.00016
NM_001853.4(COL9A3):c.1107+15C>T rs371755467 0.00015
NM_001853.4(COL9A3):c.1293G>A (p.Pro431=) rs147410240 0.00011
NM_001853.4(COL9A3):c.1621G>A (p.Ala541Thr) rs201572795 0.00011
NM_001853.4(COL9A3):c.1668C>T (p.Pro556=) rs370134217 0.00011
NM_001853.4(COL9A3):c.413G>A (p.Arg138His) rs199846937 0.00011
NM_001853.4(COL9A3):c.537G>A (p.Pro179=) rs530176764 0.00009
NM_001853.4(COL9A3):c.1680C>T (p.Gly560=) rs149126795 0.00008
NM_001853.4(COL9A3):c.1836C>T (p.Asp612=) rs376259511 0.00008
NM_001853.4(COL9A3):c.441C>T (p.Pro147=) rs41306378 0.00008
NM_001853.4(COL9A3):c.*8C>T rs201654774 0.00006
NM_001853.4(COL9A3):c.1748G>A (p.Arg583His) rs201219004 0.00006
NM_001853.4(COL9A3):c.1623C>T (p.Ala541=) rs756630567 0.00004
NM_001853.4(COL9A3):c.360T>C (p.Pro120=) rs769310210 0.00004
NM_001853.4(COL9A3):c.1626G>A (p.Ala542=) rs756770871 0.00002
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser) rs774823793 0.00002
NM_001853.4(COL9A3):c.738+8C>T rs755025250 0.00002
NM_001853.4(COL9A3):c.1215+36dup rs397840562
NM_001853.4(COL9A3):c.1215+8A>G
NM_001853.4(COL9A3):c.255+18_255+20dup rs377557569
NM_001853.4(COL9A3):c.259C>T (p.Leu87=)
NM_001853.4(COL9A3):c.424-10C>T
NM_001853.4(COL9A3):c.672C>T (p.Ser224=)

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