ClinVar Miner

List of variants in gene COL11A2 studied for Stickler syndrome, type 3

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Total variants: 7
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HGVS dbSNP
NM_080679.2(COL11A2):c.2501_2527del (p.Glu834_Pro843delinsAla) rs864309477
NM_080679.2(COL11A2):c.3814C>T (p.Arg1272Ter) rs121912950
NM_080679.2(COL11A2):c.4001G>A (p.Gly1334Glu) rs121912946
NM_080679.2(COL11A2):c.4071+1G>A rs750995470
NM_080679.2(COL11A2):c.587T>C (p.Leu196Pro) rs150982987
NM_080679.2(COL11A2):c.628A>G (p.Ile210Val) rs778295133
NM_080679.2(COL11A2):c.798+1585G>A rs139116571

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