ClinVar Miner

List of variants in gene COL11A1 reported as uncertain significance by Ambry Genetics

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00031
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429 0.00018
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580 0.00014
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val) rs779282500 0.00010
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro) rs775587076 0.00006
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val) rs138507620 0.00004
NM_001854.4(COL11A1):c.35G>A (p.Arg12Gln) rs767496065 0.00003
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser) rs370988085 0.00003
NM_001854.4(COL11A1):c.4213G>A (p.Gly1405Ser) rs376137502 0.00003
NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser) rs375314757 0.00002
NM_001854.4(COL11A1):c.2780T>C (p.Val927Ala) rs776051361 0.00002
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp) rs778379327 0.00001
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys) rs377320274 0.00001
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu) rs764478054 0.00001
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser) rs778311240 0.00001
NM_001854.4(COL11A1):c.3874C>A (p.Pro1292Thr) rs1271972029 0.00001
NM_001854.4(COL11A1):c.1181C>A (p.Thr394Lys)
NM_001854.4(COL11A1):c.1331C>A (p.Pro444Gln)
NM_001854.4(COL11A1):c.1492C>T (p.Arg498Cys)
NM_001854.4(COL11A1):c.218C>T (p.Ala73Val) rs1672522063
NM_001854.4(COL11A1):c.2260G>A (p.Gly754Ser)
NM_001854.4(COL11A1):c.2464A>G (p.Thr822Ala)
NM_001854.4(COL11A1):c.2609G>A (p.Arg870Gln)
NM_001854.4(COL11A1):c.2633C>G (p.Pro878Arg) rs370974962
NM_001854.4(COL11A1):c.2654C>T (p.Thr885Met) rs550201657
NM_001854.4(COL11A1):c.2741C>A (p.Pro914His) rs2101678875
NM_001854.4(COL11A1):c.3365C>A (p.Pro1122His) rs2101304072
NM_001854.4(COL11A1):c.3479C>A (p.Ala1160Asp) rs1658006964
NM_001854.4(COL11A1):c.3535T>C (p.Phe1179Leu) rs2101214143
NM_001854.4(COL11A1):c.4066C>G (p.Pro1356Ala)
NM_001854.4(COL11A1):c.4099G>C (p.Ala1367Pro)
NM_001854.4(COL11A1):c.4508C>G (p.Pro1503Arg)
NM_001854.4(COL11A1):c.4534A>G (p.Lys1512Glu) rs1651341768
NM_001854.4(COL11A1):c.454C>G (p.Pro152Ala)
NM_001854.4(COL11A1):c.4810G>T (p.Ala1604Ser)
NM_001854.4(COL11A1):c.5284G>A (p.Gly1762Ser)
NM_001854.4(COL11A1):c.5390T>G (p.Phe1797Cys)
NM_001854.4(COL11A1):c.5401C>G (p.Pro1801Ala)
NM_001854.4(COL11A1):c.550A>G (p.Lys184Glu)
NM_001854.4(COL11A1):c.568C>G (p.Leu190Val)
NM_001854.4(COL11A1):c.836A>C (p.Lys279Thr)
NM_001854.4(COL11A1):c.929A>T (p.Asn310Ile)

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