ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance for Connective tissue disorder

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp) rs200635355 0.00008
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser) rs747029402 0.00007
NM_080680.3(COL11A2):c.3540C>T (p.Gly1180=) rs759890035 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.1181G>A (p.Gly394Asp) rs1554221958 0.00001
NM_080680.3(COL11A2):c.1570C>T (p.Pro524Ser) rs2150579159
NM_080680.3(COL11A2):c.2627G>T (p.Arg876Met) rs745859259
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu) rs142890313

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