ClinVar Miner

List of variants in gene COL11A1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 11
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HGVS dbSNP
NM_001854.3(COL11A1):c.2916+3A>G rs200515572
NM_001854.3(COL11A1):c.3297G>C (p.Gly1099=) rs768553239
NM_001854.3(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207
NM_080629.2(COL11A1):c.1088A>G (p.Gln363Arg) rs751155680
NM_080629.2(COL11A1):c.1573G>C (p.Glu525Gln) rs1288240581
NM_080629.2(COL11A1):c.1778G>A (p.Arg593His) rs769449348
NM_080629.2(COL11A1):c.2459G>A (p.Gly820Glu) rs754751701
NM_080629.2(COL11A1):c.3393C>T (p.Ala1131=) rs375400337
NM_080629.2(COL11A1):c.3815C>A (p.Ala1272Glu) rs750838060
NM_080629.2(COL11A1):c.4338+2T>C rs1553196233
NM_080629.2(COL11A1):c.652-1G>C rs1064797115

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