ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg) rs751155680
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1537G>C (p.Glu513Gln) rs1288240581
NM_001854.4(COL11A1):c.1742G>A (p.Arg581His) rs769449348
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655
NM_001854.4(COL11A1):c.2423G>A (p.Gly808Glu) rs754751701
NM_001854.4(COL11A1):c.2916+3A>G rs200515572
NM_001854.4(COL11A1):c.2998G>A (p.Gly1000Ser)
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) rs768553239
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=) rs375400337
NM_001854.4(COL11A1):c.3437A>G (p.Asn1146Ser)
NM_001854.4(COL11A1):c.3496G>T (p.Gly1166Cys)
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu) rs750838060
NM_001854.4(COL11A1):c.3978+2T>G rs1570712875
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405
NM_001854.4(COL11A1):c.4878T>C (p.Pro1626=) rs1570618762
NM_001854.4(COL11A1):c.652-1G>C rs1064797115

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