ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900 0.00041
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380 0.00029
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys) rs146291186 0.00016
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150 0.00012
NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg) rs773673162 0.00011
NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp) rs201938007 0.00009
NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu) rs572969883 0.00008
NM_004369.4(COL6A3):c.1996G>A (p.Val666Ile) rs111584250 0.00007
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443 0.00006
NM_004369.4(COL6A3):c.6902T>C (p.Val2301Ala) rs111927395 0.00005
NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys) rs137923508 0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His) rs575412915 0.00004
NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu) rs370806359 0.00004
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala) rs540633944 0.00004
NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu) rs75071027 0.00003
NM_004369.4(COL6A3):c.439G>A (p.Val147Ile) rs536452909 0.00003
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala) rs770496206 0.00001
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser) rs780262157 0.00001
NM_004369.4(COL6A3):c.2382C>A (p.Ser794Arg) rs1309440736 0.00001
NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu) rs762240306 0.00001
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro) rs772944531 0.00001
NM_004369.4(COL6A3):c.409C>T (p.Arg137Trp) rs143819673 0.00001
NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg) rs398124120 0.00001
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln) rs539986030 0.00001
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu) rs773775745 0.00001
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met) rs759657526 0.00001
NM_004369.4(COL6A3):c.1334A>T (p.Asp445Val)
NM_004369.4(COL6A3):c.1504C>T (p.His502Tyr) rs2106370213
NM_004369.4(COL6A3):c.1514A>G (p.Lys505Arg) rs747914812
NM_004369.4(COL6A3):c.170T>C (p.Leu57Pro)
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu) rs76576170
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg)
NM_004369.4(COL6A3):c.3142A>G (p.Lys1048Glu)
NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val) rs372844024
NM_004369.4(COL6A3):c.3430T>C (p.Ser1144Pro)
NM_004369.4(COL6A3):c.378G>A (p.Met126Ile)
NM_004369.4(COL6A3):c.4047C>A (p.Asp1349Glu)
NM_004369.4(COL6A3):c.4173G>A (p.Val1391=) rs1553559164
NM_004369.4(COL6A3):c.4346C>A (p.Pro1449Gln)
NM_004369.4(COL6A3):c.4412G>A (p.Ser1471Asn)
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp) rs144223596
NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg)
NM_004369.4(COL6A3):c.4729A>G (p.Asn1577Asp) rs1559239453
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val) rs941055048
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu) rs886043879
NM_004369.4(COL6A3):c.5176C>A (p.Leu1726Met) rs2106350728
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly) rs150200531
NM_004369.4(COL6A3):c.5605A>G (p.Ile1869Val)
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.6282G>A (p.Lys2094=) rs1574976498
NM_004369.4(COL6A3):c.6418G>A (p.Gly2140Arg) rs372697731
NM_004369.4(COL6A3):c.6581C>A (p.Thr2194Asn)
NM_004369.4(COL6A3):c.6614C>T (p.Pro2205Leu)
NM_004369.4(COL6A3):c.6646G>A (p.Gly2216Ser)
NM_004369.4(COL6A3):c.6692G>T (p.Gly2231Val)
NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His) rs398124131
NM_004369.4(COL6A3):c.6897C>A (p.Asp2299Glu)
NM_004369.4(COL6A3):c.7175-6C>G rs199723531
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro) rs1574948119
NM_004369.4(COL6A3):c.7586C>T (p.Ala2529Val)
NM_004369.4(COL6A3):c.7609G>C (p.Gly2537Arg)
NM_004369.4(COL6A3):c.7611G>A (p.Gly2537=) rs145868338
NM_004369.4(COL6A3):c.808G>C (p.Glu270Gln)
NM_004369.4(COL6A3):c.8397C>T (p.Asp2799=) rs1553546085
NM_004369.4(COL6A3):c.8411T>C (p.Leu2804Pro) rs1553546077
NM_004369.4(COL6A3):c.8513G>C (p.Trp2838Ser) rs1272949216
NM_004369.4(COL6A3):c.870C>G (p.Pro290=) rs1574740624

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