ClinVar Miner

List of variants in gene COL11A2 reported by Center for Human Genetics, Inc

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Gene type:
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Total variants: 33
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HGVS dbSNP
NM_080680.2(COL11A2):c.1181G>A (p.Gly394Asp) rs1554221958
NM_080680.2(COL11A2):c.1284+8G>A rs1161495896
NM_080680.2(COL11A2):c.1359+17delG rs765250820
NM_080680.2(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798
NM_080680.2(COL11A2):c.1446+19C>T
NM_080680.2(COL11A2):c.1479A>T (p.Gly493=) rs1554221287
NM_080680.2(COL11A2):c.1498C>T (p.Pro500Ser)
NM_080680.2(COL11A2):c.1612-10G>C rs182657680
NM_080680.2(COL11A2):c.1612-16T>A
NM_080680.2(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.2(COL11A2):c.1817C>T (p.Ser606Leu) rs147328015
NM_080680.2(COL11A2):c.2220G>A (p.Glu740=) rs202032297
NM_080680.2(COL11A2):c.2254G>A (p.Val752Met)
NM_080680.2(COL11A2):c.2271C>T (p.Gly757=) rs745568808
NM_080680.2(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477
NM_080680.2(COL11A2):c.2560G>A (p.Ala854Thr) rs371864924
NM_080680.2(COL11A2):c.2589A>C (p.Thr863=) rs1398934546
NM_080680.2(COL11A2):c.2921C>T (p.Ala974Val) rs376797260
NM_080680.2(COL11A2):c.3111G>A (p.Pro1037=) rs146093235
NM_080680.2(COL11A2):c.3475-19G>A
NM_080680.2(COL11A2):c.3576C>T (p.Gly1192=) rs138380958
NM_080680.2(COL11A2):c.3950T>C (p.Leu1317Pro) rs145871842
NM_080680.2(COL11A2):c.3974C>T (p.Ser1325Leu) rs543145528
NM_080680.2(COL11A2):c.4040C>T (p.Pro1347Leu) rs142890313
NM_080680.2(COL11A2):c.4521G>A (p.Gln1507=) rs114580597
NM_080680.2(COL11A2):c.4662C>T (p.Ile1554=) rs375518774
NM_080680.2(COL11A2):c.4750+19G>T rs1046161149
NM_080680.2(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.2(COL11A2):c.544G>A (p.Val182Ile) rs375937729
NM_080680.2(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_080680.2(COL11A2):c.813C>T (p.Leu271=)
NM_080680.2(COL11A2):c.91C>T (p.Pro31Ser) rs1554226286
NM_080680.2(COL11A2):c.966C>A (p.Pro322=) rs147527758

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