ClinVar Miner

List of variants in gene COL11A1 studied for Stickler syndrome, type 2

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Total variants: 11
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HGVS dbSNP
COL11A1, 54-BP EX DEL, AS, AG-TG
NM_001854.3(COL11A1):c.2754+5G>A rs1057518666
NM_001854.3(COL11A1):c.4396G>T (p.Glu1466Ter)
NM_001854.4(COL11A1):c.3427A>C (p.Lys1143Gln)
NM_080629.2(COL11A1):c.1910G>T (p.Gly637Val) rs121912943
NM_080629.2(COL11A1):c.3008G>A (p.Gly1003Asp)
NM_080629.2(COL11A1):c.3204+1G>T rs886042653
NM_080629.2(COL11A1):c.3474+2_3474+3delTG
NM_080629.2(COL11A1):c.3604T>C (p.Phe1202Leu) rs1377819809
NM_080629.2(COL11A1):c.781-397T>G rs1553239331
NM_080629.2:c.1898_1906delAAGGTCCTC

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