ClinVar Miner

List of variants in gene COL11A1 reported by GenomeConnect, ClinGen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00004
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) rs372419698 0.00001
NM_001854.4(COL11A1):c.4094C>T (p.Pro1365Leu) rs1652816919
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)

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