ClinVar Miner

List of variants in gene COL27A1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_032888.4(COL27A1):c.3535C>G (p.Gln1179Glu) rs114770711 0.00152
NM_032888.4(COL27A1):c.3524C>A (p.Thr1175Asn) rs139237104 0.00063
NM_032888.4(COL27A1):c.3092A>G (p.His1031Arg) rs7038559 0.00054
NM_032888.4(COL27A1):c.947G>A (p.Gly316Asp) rs113786411 0.00041
NM_032888.4(COL27A1):c.893C>T (p.Thr298Ile) rs148990468 0.00030
NM_032888.4(COL27A1):c.5177A>G (p.His1726Arg) rs200848931 0.00015
NM_032888.4(COL27A1):c.4967T>C (p.Leu1656Pro) rs145069844 0.00014
NM_032888.4(COL27A1):c.739G>A (p.Gly247Arg) rs144068722 0.00012
NM_032888.4(COL27A1):c.938C>T (p.Ala313Val) rs779082252 0.00011
NM_032888.4(COL27A1):c.3568C>T (p.Leu1190Phe) rs748068839 0.00008
NM_032888.4(COL27A1):c.4682G>A (p.Arg1561Gln) rs748090537 0.00008
NM_032888.4(COL27A1):c.961C>T (p.Pro321Ser) rs781383926 0.00008
NM_032888.4(COL27A1):c.722C>T (p.Thr241Met) rs148448277 0.00007
NM_032888.4(COL27A1):c.1052C>T (p.Ala351Val) rs142594229 0.00006
NM_032888.4(COL27A1):c.2654G>A (p.Arg885Gln) rs199597099 0.00006
NM_032888.4(COL27A1):c.2815C>T (p.Arg939Cys) rs200705000 0.00006
NM_032888.4(COL27A1):c.787G>A (p.Asp263Asn) rs200344636 0.00005
NM_032888.4(COL27A1):c.1669C>T (p.Leu557Phe) rs956892736 0.00004
NM_032888.4(COL27A1):c.1784C>T (p.Ala595Val) rs756393374 0.00004
NM_032888.4(COL27A1):c.2535C>A (p.Ser845Arg) rs751042704 0.00004
NM_032888.4(COL27A1):c.3406C>A (p.Pro1136Thr) rs199763065 0.00002
NM_032888.4(COL27A1):c.3554G>A (p.Arg1185Gln) rs374160108 0.00002
NM_032888.4(COL27A1):c.1046G>A (p.Arg349His)
NM_032888.4(COL27A1):c.1082C>A (p.Ala361Asp)
NM_032888.4(COL27A1):c.1190C>A (p.Thr397Lys)
NM_032888.4(COL27A1):c.1247C>G (p.Ala416Gly)
NM_032888.4(COL27A1):c.1259G>A (p.Arg420His)
NM_032888.4(COL27A1):c.1269G>T (p.Glu423Asp)
NM_032888.4(COL27A1):c.1289C>A (p.Pro430Gln)
NM_032888.4(COL27A1):c.1324C>G (p.Pro442Ala)
NM_032888.4(COL27A1):c.1376G>A (p.Arg459Gln)
NM_032888.4(COL27A1):c.1412C>T (p.Pro471Leu)
NM_032888.4(COL27A1):c.1447C>A (p.Pro483Thr)
NM_032888.4(COL27A1):c.1567G>A (p.Val523Ile)
NM_032888.4(COL27A1):c.1636G>A (p.Gly546Arg)
NM_032888.4(COL27A1):c.1695T>A (p.Asp565Glu)
NM_032888.4(COL27A1):c.170C>T (p.Thr57Met) rs150242638
NM_032888.4(COL27A1):c.1727G>C (p.Ser576Thr) rs148019836
NM_032888.4(COL27A1):c.1727G>T (p.Ser576Ile) rs148019836
NM_032888.4(COL27A1):c.1808G>A (p.Arg603Gln)
NM_032888.4(COL27A1):c.1814C>T (p.Thr605Met)
NM_032888.4(COL27A1):c.1901G>C (p.Gly634Ala)
NM_032888.4(COL27A1):c.1907C>T (p.Pro636Leu)
NM_032888.4(COL27A1):c.1951C>T (p.Arg651Cys)
NM_032888.4(COL27A1):c.1979A>T (p.Tyr660Phe)
NM_032888.4(COL27A1):c.203T>C (p.Ile68Thr)
NM_032888.4(COL27A1):c.2207G>C (p.Gly736Ala)
NM_032888.4(COL27A1):c.2324G>T (p.Gly775Val)
NM_032888.4(COL27A1):c.2326C>G (p.Leu776Val)
NM_032888.4(COL27A1):c.2360G>A (p.Gly787Asp)
NM_032888.4(COL27A1):c.2363T>A (p.Met788Lys)
NM_032888.4(COL27A1):c.2417A>T (p.Asn806Ile)
NM_032888.4(COL27A1):c.242G>A (p.Arg81Gln)
NM_032888.4(COL27A1):c.2443C>T (p.Pro815Ser)
NM_032888.4(COL27A1):c.2489C>T (p.Pro830Leu)
NM_032888.4(COL27A1):c.250G>A (p.Ala84Thr)
NM_032888.4(COL27A1):c.2544G>C (p.Glu848Asp)
NM_032888.4(COL27A1):c.2545C>T (p.Pro849Ser)
NM_032888.4(COL27A1):c.2606T>C (p.Phe869Ser)
NM_032888.4(COL27A1):c.2653C>T (p.Arg885Trp)
NM_032888.4(COL27A1):c.277G>A (p.Ala93Thr)
NM_032888.4(COL27A1):c.2807C>T (p.Pro936Leu)
NM_032888.4(COL27A1):c.2833G>A (p.Glu945Lys)
NM_032888.4(COL27A1):c.2841T>G (p.Asp947Glu)
NM_032888.4(COL27A1):c.2917G>A (p.Gly973Ser)
NM_032888.4(COL27A1):c.2929G>A (p.Val977Met)
NM_032888.4(COL27A1):c.2956C>T (p.Arg986Trp)
NM_032888.4(COL27A1):c.2980G>A (p.Gly994Arg)
NM_032888.4(COL27A1):c.3008G>C (p.Gly1003Ala)
NM_032888.4(COL27A1):c.3022G>A (p.Val1008Met) rs139143802
NM_032888.4(COL27A1):c.3052G>A (p.Gly1018Arg)
NM_032888.4(COL27A1):c.3062G>A (p.Gly1021Asp) rs1554816354
NM_032888.4(COL27A1):c.3136C>T (p.Pro1046Ser)
NM_032888.4(COL27A1):c.3463G>T (p.Val1155Leu)
NM_032888.4(COL27A1):c.3613G>C (p.Asp1205His)
NM_032888.4(COL27A1):c.3703G>A (p.Val1235Ile)
NM_032888.4(COL27A1):c.371del (p.Leu124fs) rs1554787366
NM_032888.4(COL27A1):c.418G>A (p.Gly140Arg)
NM_032888.4(COL27A1):c.4246C>T (p.Arg1416Trp)
NM_032888.4(COL27A1):c.424C>T (p.Arg142Trp)
NM_032888.4(COL27A1):c.4351G>A (p.Gly1451Arg)
NM_032888.4(COL27A1):c.4399C>T (p.Pro1467Ser)
NM_032888.4(COL27A1):c.4520G>A (p.Arg1507Gln)
NM_032888.4(COL27A1):c.4670T>C (p.Ile1557Thr)
NM_032888.4(COL27A1):c.4681C>T (p.Arg1561Trp)
NM_032888.4(COL27A1):c.4736T>C (p.Leu1579Pro)
NM_032888.4(COL27A1):c.4781G>A (p.Arg1594His)
NM_032888.4(COL27A1):c.4793G>T (p.Gly1598Val)
NM_032888.4(COL27A1):c.4832G>A (p.Arg1611Gln)
NM_032888.4(COL27A1):c.4G>A (p.Gly2Arg)
NM_032888.4(COL27A1):c.5073G>T (p.Arg1691Ser)
NM_032888.4(COL27A1):c.5185C>T (p.Gln1729Ter) rs1554829390
NM_032888.4(COL27A1):c.5359C>A (p.Arg1787Ser)
NM_032888.4(COL27A1):c.5484A>C (p.Gln1828His)
NM_032888.4(COL27A1):c.5517C>A (p.Asp1839Glu)
NM_032888.4(COL27A1):c.5558A>C (p.Glu1853Ala)
NM_032888.4(COL27A1):c.616G>A (p.Ala206Thr)
NM_032888.4(COL27A1):c.673G>A (p.Ala225Thr)
NM_032888.4(COL27A1):c.698G>C (p.Arg233Thr)
NM_032888.4(COL27A1):c.769C>T (p.Pro257Ser)
NM_032888.4(COL27A1):c.770C>A (p.Pro257His)
NM_032888.4(COL27A1):c.7G>A (p.Ala3Thr)
NM_032888.4(COL27A1):c.881C>T (p.Pro294Leu)
NM_032888.4(COL27A1):c.944G>A (p.Gly315Glu)

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