ClinVar Miner

List of variants in gene COL11A2 reported as pathogenic by OMIM

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Total variants: 15
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COL11A2, 9-BP DEL, NT2899
COL11A2, IVS18, 1-BP INS, +3
NM_080679.2(COL11A2):c.109G>T (p.Ala37Ser) rs606231410
NM_080679.2(COL11A2):c.1540C>A (p.Pro514Thr) rs121912952
NM_080679.2(COL11A2):c.1660G>A (p.Gly554Arg) rs121912945
NM_080679.2(COL11A2):c.2102G>A (p.Gly701Glu) rs121912948
NM_080679.2(COL11A2):c.2171C>A (p.Ser724Ter) rs121912949
NM_080679.2(COL11A2):c.2341C>A (p.Pro781Thr) rs864309523
NM_080679.2(COL11A2):c.2501_2527del (p.Glu834_Pro843delinsAla) rs864309477
NM_080679.2(COL11A2):c.2779C>T (p.Arg927Cys) rs121912947
NM_080679.2(COL11A2):c.3670C>T (p.Arg1224Ter) rs121912951
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_080680.2(COL11A2):c.3962delG (p.Gly1321Valfs) rs1562315748

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