ClinVar Miner

List of variants in gene COL11A1 reported as pathogenic

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Total variants: 24
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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
GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp) rs886039743
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) rs121912943
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.2927G>T (p.Gly976Val) rs121912944
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter) rs1557812993
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter) rs755987732
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001854.4(COL11A1):c.781-70T>G rs587782990
NM_080629.2(COL11A1):c.1822dup (p.Ala608fs) rs730882190
NM_080629.2(COL11A1):c.2386G>C (p.Gly796Arg) rs387906611
NM_080629.2(COL11A1):c.3204+1G>T rs886042653
NM_080629.2(COL11A1):c.3277G>C (p.Gly1093Arg) rs397514455
NM_080629.2(COL11A1):c.3474+2_3474+3delTG rs1557847904
NM_080629.2(COL11A1):c.3745-1G>A rs727503881
NM_080629.2(COL11A1):c.4068+1G>A rs1553200868
NM_080629.2(COL11A1):c.4590+1G>C rs886044244
NM_080629.2(COL11A1):c.652-2A>C

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