ClinVar Miner

List of variants in gene COL11A1 reported by OMIM

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Total variants: 11
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HGVS dbSNP
COL11A1, 1-BP INS, 3816T
COL11A1, 4-BP DEL, EX50/IVS50
COL11A1, 54-BP EX DEL, AS, AG-TG
NM_001854.3(COL11A1):c.3816+1G>A rs398122828
NM_001854.3(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486
NM_080629.2(COL11A1):c.1822dup (p.Ala608Glyfs) rs730882190
NM_080629.2(COL11A1):c.1910G>T (p.Gly637Val) rs121912943
NM_080629.2(COL11A1):c.2386G>C (p.Gly796Arg) rs387906611
NM_080629.2(COL11A1):c.2963G>T (p.Gly988Val) rs121912944
NM_080629.2(COL11A1):c.3277G>C (p.Gly1093Arg) rs397514455
NM_080629.2(COL11A1):c.3979G>T (p.Gly1327Ter)

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