ClinVar Miner

List of variants in gene COL11A2 reported by Ambry Genetics

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893 0.00026
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825 0.00014
NM_080680.3(COL11A2):c.4126C>G (p.Gln1376Glu) rs150784358 0.00012
NM_080680.3(COL11A2):c.2533C>T (p.Pro845Ser) rs200993927 0.00011
NM_080680.3(COL11A2):c.2849C>T (p.Pro950Leu) rs141465781 0.00009
NM_080680.3(COL11A2):c.539G>A (p.Arg180His) rs142462583 0.00008
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys) rs727504458 0.00006
NM_080680.3(COL11A2):c.4202G>A (p.Arg1401Gln) rs184399988 0.00005
NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu) rs763995767 0.00004
NM_080680.3(COL11A2):c.4516A>G (p.Ile1506Val) rs772312309 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_080680.3(COL11A2):c.2495G>A (p.Gly832Glu) rs750006299 0.00003
NM_080680.3(COL11A2):c.2669C>T (p.Pro890Leu) rs764307090 0.00003
NM_080680.3(COL11A2):c.107G>A (p.Arg36Gln) rs757584689 0.00001
NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg) rs768569721 0.00001
NM_080680.3(COL11A2):c.3110C>T (p.Pro1037Leu) rs1048400213 0.00001
NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser) rs754703121 0.00001
NM_080680.3(COL11A2):c.3794A>G (p.Asn1265Ser) rs1769701069 0.00001
NM_080680.3(COL11A2):c.4337T>C (p.Met1446Thr) rs781001180 0.00001
NM_080680.3(COL11A2):c.4384G>A (p.Gly1462Ser) rs550330978 0.00001
NM_080680.3(COL11A2):c.1071G>T (p.Glu357Asp)
NM_080680.3(COL11A2):c.1244T>G (p.Ile415Ser)
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1795C>T (p.Pro599Ser)
NM_080680.3(COL11A2):c.185T>C (p.Val62Ala) rs1177392089
NM_080680.3(COL11A2):c.1921C>A (p.Pro641Thr)
NM_080680.3(COL11A2):c.2268+1G>T rs797044915
NM_080680.3(COL11A2):c.2593G>C (p.Gly865Arg)
NM_080680.3(COL11A2):c.2597G>A (p.Gly866Asp)
NM_080680.3(COL11A2):c.2623G>A (p.Glu875Lys)
NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)
NM_080680.3(COL11A2):c.3125G>A (p.Gly1042Glu)
NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr) rs372806452
NM_080680.3(COL11A2):c.3413G>A (p.Gly1138Glu)
NM_080680.3(COL11A2):c.3475G>C (p.Gly1159Arg)
NM_080680.3(COL11A2):c.349G>C (p.Gly117Arg)
NM_080680.3(COL11A2):c.358G>A (p.Val120Ile)
NM_080680.3(COL11A2):c.3719G>C (p.Gly1240Ala)
NM_080680.3(COL11A2):c.3752C>T (p.Pro1251Leu)
NM_080680.3(COL11A2):c.392C>T (p.Pro131Leu)
NM_080680.3(COL11A2):c.4387C>T (p.Leu1463Phe)
NM_080680.3(COL11A2):c.4753G>C (p.Glu1585Gln)
NM_080680.3(COL11A2):c.4837G>T (p.Val1613Leu)
NM_080680.3(COL11A2):c.4951G>T (p.Val1651Phe) rs766589324
NM_080680.3(COL11A2):c.4999C>A (p.Arg1667Ser) rs759322344
NM_080680.3(COL11A2):c.679G>A (p.Glu227Lys)
NM_080680.3(COL11A2):c.920T>A (p.Leu307His) rs1772205515

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