ClinVar Miner

List of variants in gene COL11A1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.*1203G>A rs190577885 0.00554
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171 0.00023
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979 0.00014
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00009
NM_001854.4(COL11A1):c.4176C>A (p.Thr1392=) rs750903509 0.00003
NM_001854.4(COL11A1):c.1717A>G (p.Thr573Ala) rs560019202 0.00001
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) rs768553239 0.00001
NM_001854.4(COL11A1):c.1176A>G (p.Lys392=)
NM_001854.4(COL11A1):c.1537G>C (p.Glu513Gln) rs1288240581
NM_001854.4(COL11A1):c.2142+368T>C
NM_001854.4(COL11A1):c.2142+734A>G
NM_001854.4(COL11A1):c.2142+744C>T
NM_001854.4(COL11A1):c.246C>G (p.Leu82=)
NM_001854.4(COL11A1):c.3081T>C (p.Gly1027=)
NM_001854.4(COL11A1):c.4878T>C (p.Pro1626=) rs1570618762
NM_001854.4(COL11A1):c.501A>G (p.Val167=)

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