ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance by Center for Human Genetics, Inc

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Total variants: 5
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HGVS dbSNP
NM_080680.2(COL11A2):c.1181G>A (p.Gly394Asp) rs1554221958
NM_080680.2(COL11A2):c.1498C>T (p.Pro500Ser)
NM_080680.2(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.2(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477
NM_080680.2(COL11A2):c.4040C>T (p.Pro1347Leu) rs142890313

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