ClinVar Miner

List of variants in gene COL11A2 studied for Connective tissue disorder

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Total variants: 33
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HGVS dbSNP
NM_080679.2(COL11A2):c.1061G>A (p.Gly354Asp) rs141140798
NM_080679.2(COL11A2):c.1125+19C>T
NM_080679.2(COL11A2):c.1158A>T (p.Gly386=) rs1554221287
NM_080679.2(COL11A2):c.1177C>T (p.Pro393Ser)
NM_080679.2(COL11A2):c.1291-10G>C rs182657680
NM_080679.2(COL11A2):c.1291-16T>A
NM_080679.2(COL11A2):c.1294C>T (p.Arg432Trp) rs145499142
NM_080679.2(COL11A2):c.1496C>T (p.Ser499Leu) rs147328015
NM_080679.2(COL11A2):c.1899G>A (p.Glu633=) rs202032297
NM_080679.2(COL11A2):c.1933G>A (p.Val645Met)
NM_080679.2(COL11A2):c.1950C>T (p.Gly650=) rs745568808
NM_080679.2(COL11A2):c.2234G>A (p.Arg745Gln) rs147927477
NM_080679.2(COL11A2):c.2239G>A (p.Ala747Thr) rs371864924
NM_080679.2(COL11A2):c.2268A>C (p.Thr756=) rs1398934546
NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val) rs376797260
NM_080679.2(COL11A2):c.2790G>A (p.Pro930=) rs146093235
NM_080679.2(COL11A2):c.3154-19G>A
NM_080679.2(COL11A2):c.3255C>T (p.Gly1085=) rs138380958
NM_080679.2(COL11A2):c.3629T>C (p.Leu1210Pro) rs145871842
NM_080679.2(COL11A2):c.3653C>T (p.Ser1218Leu) rs543145528
NM_080679.2(COL11A2):c.3719C>T (p.Pro1240Leu) rs142890313
NM_080679.2(COL11A2):c.4200G>A (p.Gln1400=) rs114580597
NM_080679.2(COL11A2):c.4341C>T (p.Ile1447=) rs375518774
NM_080679.2(COL11A2):c.4429+19G>T rs1046161149
NM_080679.2(COL11A2):c.4679G>A (p.Arg1560His) rs146555195
NM_080679.2(COL11A2):c.544G>A (p.Val182Ile) rs375937729
NM_080679.2(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_080679.2(COL11A2):c.798+2329C>A rs147527758
NM_080679.2(COL11A2):c.798+863C>T
NM_080679.2(COL11A2):c.860G>A (p.Gly287Asp) rs1554221958
NM_080679.2(COL11A2):c.91C>T (p.Pro31Ser) rs1554226286
NM_080679.2(COL11A2):c.963+8G>A rs1161495896
NM_080680.2(COL11A2):c.1359+17delG rs765250820

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