ClinVar Miner

List of variants in gene COL11A2 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 26
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HGVS dbSNP
GRCh37/hg19 6p21.32(chr6:33131455-33139880)x3
NM_080680.3(COL11A2):c.1188C>T (p.Leu396=) rs532305958
NM_080680.3(COL11A2):c.1363C>T (p.Arg455Trp) rs144862714
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser) rs747029402
NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln) rs770888294
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) rs139350991
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter) rs374156844
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477
NM_080680.3(COL11A2):c.2761C>T (p.Pro921Ser) rs1416503874
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3118C>G (p.Pro1040Ala) rs759919085
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338
NM_080680.3(COL11A2):c.4220del (p.Lys1407fs) rs1562312539
NM_080680.3(COL11A2):c.4323G>A (p.Gly1441=) rs1476202918
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg)
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.3(COL11A2):c.5152C>A (p.Leu1718Met) rs1413052565
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_080680.3(COL11A2):c.939+1G>A rs750173113
NM_080680.3(COL11A2):c.982C>T (p.Gln328Ter) rs1554223504

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