ClinVar Miner

List of variants in gene COL27A1 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_032888.4(COL27A1):c.2797C>T (p.Arg933Ter) rs940642841 0.00001
NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter) rs1328051341 0.00001
NM_032888.4(COL27A1):c.3616del (p.Arg1206fs) rs1835450838 0.00001
NC_000009.11:g.(?_116917341)_(116918270_?)del
NC_000009.12:g.114162718del
NC_000009.12:g.114205103del
NC_000009.12:g.114231822_114231832del
NC_000009.12:g.114258542_114258551del
NC_000009.12:g.114290059del
NM_032888.4(COL27A1):c.1060C>T (p.Gln354Ter) rs1849075301
NM_032888.4(COL27A1):c.1216C>T (p.Gln406Ter) rs1849088219
NM_032888.4(COL27A1):c.1251_1252del (p.Arg417fs)
NM_032888.4(COL27A1):c.1289del (p.Pro430fs)
NM_032888.4(COL27A1):c.1373del (p.Ala458fs) rs2135083222
NM_032888.4(COL27A1):c.168G>A (p.Trp56Ter)
NM_032888.4(COL27A1):c.1734_1743dup (p.Pro582fs) rs2135087452
NM_032888.4(COL27A1):c.1865del (p.Leu622fs)
NM_032888.4(COL27A1):c.1891_1908+1dup rs1849155569
NM_032888.4(COL27A1):c.2065del (p.Ala689fs) rs2135241404
NM_032888.4(COL27A1):c.2119C>T (p.Arg707Ter) rs1401322428
NM_032888.4(COL27A1):c.2139T>A (p.Tyr713Ter) rs2135298547
NM_032888.4(COL27A1):c.2320C>T (p.Arg774Ter) rs1465820080
NM_032888.4(COL27A1):c.2446_2447delinsA (p.Pro816fs)
NM_032888.4(COL27A1):c.2542del (p.Glu848fs) rs2135434002
NM_032888.4(COL27A1):c.2576_2577insT (p.Val860fs) rs2135453120
NM_032888.4(COL27A1):c.2809G>T (p.Gly937Ter) rs1832681636
NM_032888.4(COL27A1):c.3083dup (p.Met1029fs) rs2135531602
NM_032888.4(COL27A1):c.3157C>T (p.Arg1053Ter)
NM_032888.4(COL27A1):c.3195+1G>A
NM_032888.4(COL27A1):c.3248del (p.Lys1083fs) rs2135591632
NM_032888.4(COL27A1):c.3265C>T (p.Gln1089Ter)
NM_032888.4(COL27A1):c.3310C>T (p.Arg1104Ter)
NM_032888.4(COL27A1):c.3365del (p.Pro1122fs)
NM_032888.4(COL27A1):c.3365dup (p.Gly1123fs) rs1431754712
NM_032888.4(COL27A1):c.3377del (p.Gly1126fs)
NM_032888.4(COL27A1):c.3518_3519insAGGG (p.Thr1175fs) rs2135622964
NM_032888.4(COL27A1):c.3680_3692del (p.Asp1227fs) rs2135666480
NM_032888.4(COL27A1):c.3690dup (p.Gly1231fs)
NM_032888.4(COL27A1):c.3698dup (p.Gly1234fs)
NM_032888.4(COL27A1):c.3786_3787delinsCT (p.Gln1263Ter)
NM_032888.4(COL27A1):c.3863del (p.Gly1288fs)
NM_032888.4(COL27A1):c.3917del (p.Gly1306fs) rs1836077490
NM_032888.4(COL27A1):c.4255del (p.Val1419fs)
NM_032888.4(COL27A1):c.4300dup (p.Arg1434fs)
NM_032888.4(COL27A1):c.4357dup (p.Ala1453fs)
NM_032888.4(COL27A1):c.4519C>T (p.Arg1507Ter) rs1289391715
NM_032888.4(COL27A1):c.4560_4561del (p.Glu1521fs)
NM_032888.4(COL27A1):c.4561G>T (p.Glu1521Ter)
NM_032888.4(COL27A1):c.4672C>T (p.Gln1558Ter)
NM_032888.4(COL27A1):c.4729G>T (p.Gly1577Ter)
NM_032888.4(COL27A1):c.4760del (p.Pro1587fs) rs2131663679
NM_032888.4(COL27A1):c.4873C>T (p.Gln1625Ter)
NM_032888.4(COL27A1):c.4891_4909del (p.Ala1631fs)
NM_032888.4(COL27A1):c.490C>T (p.Arg164Ter) rs2135073208
NM_032888.4(COL27A1):c.4972C>T (p.Gln1658Ter)
NM_032888.4(COL27A1):c.5129del (p.Asn1710fs)
NM_032888.4(COL27A1):c.5281C>T (p.Gln1761Ter)
NM_032888.4(COL27A1):c.5373G>A (p.Trp1791Ter) rs2131700308
NM_032888.4(COL27A1):c.554dup (p.His186fs) rs1849030350
NM_032888.4(COL27A1):c.611dup (p.His205fs)
NM_032888.4(COL27A1):c.62+1del rs756877794
NM_032888.4(COL27A1):c.697_707del (p.Arg233fs) rs2135075507
NM_032888.4(COL27A1):c.734del (p.Pro245fs)
NM_032888.4(COL27A1):c.903_916del (p.Gln301fs)
NM_032888.4(COL27A1):c.924_927dup (p.Gln310fs) rs2135078208
NM_032888.4(COL27A1):c.99del (p.Cys34fs)

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