ClinVar Miner

List of variants in gene COL11A1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP
NC_000001.11:g.102923244_102923245del
NC_000001.11:g.103018051del
NC_000001.11:g.103082607_103082611del
NM_001854.3(COL11A1):c.1792-12_1792-10dupATG rs71752747
NM_001854.3(COL11A1):c.991-14delA rs768258098
NM_001854.4(COL11A1):c.*17A>G rs190728953
NM_001854.4(COL11A1):c.-50A>G rs369810404
NM_001854.4(COL11A1):c.-78T>A rs12025921
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=)
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=) rs371490794
NM_001854.4(COL11A1):c.1308+20C>A
NM_001854.4(COL11A1):c.1413+156T>A
NM_001854.4(COL11A1):c.1573-15T>C rs772291375
NM_001854.4(COL11A1):c.1630-13T>C rs370547604
NM_001854.4(COL11A1):c.1635G>A (p.Gly545=) rs746478999
NM_001854.4(COL11A1):c.1683+20C>G rs373143275
NM_001854.4(COL11A1):c.1684-7G>C rs201494436
NM_001854.4(COL11A1):c.1899+16T>G rs767808576
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)
NM_001854.4(COL11A1):c.1945-19C>T
NM_001854.4(COL11A1):c.1945-7C>A rs201424786
NM_001854.4(COL11A1):c.1998+11C>T rs375664445
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=) rs530187653
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655
NM_001854.4(COL11A1):c.2197-10C>T rs1057521170
NM_001854.4(COL11A1):c.2197-240C>T
NM_001854.4(COL11A1):c.2295+5C>T rs369103119
NM_001854.4(COL11A1):c.2296-19C>T rs776330050
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161
NM_001854.4(COL11A1):c.2556+14A>G rs1365339245
NM_001854.4(COL11A1):c.2556+239C>A
NM_001854.4(COL11A1):c.2557-138G>A
NM_001854.4(COL11A1):c.2557-14T>C rs546175264
NM_001854.4(COL11A1):c.2557-8T>C
NM_001854.4(COL11A1):c.2610+18G>A
NM_001854.4(COL11A1):c.2656-4G>T rs1553224423
NM_001854.4(COL11A1):c.2739C>T (p.Gly913=) rs1553224335
NM_001854.4(COL11A1):c.274+5A>G
NM_001854.4(COL11A1):c.275-14C>T rs370321983
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745
NM_001854.4(COL11A1):c.2808+14C>G rs1015791965
NM_001854.4(COL11A1):c.2862+200G>C
NM_001854.4(COL11A1):c.2916+3A>G rs200515572
NM_001854.4(COL11A1):c.2917-197C>G
NM_001854.4(COL11A1):c.3024+13T>C rs201141572
NM_001854.4(COL11A1):c.3025-6C>T rs780046337
NM_001854.4(COL11A1):c.3168+9G>A rs1553218164
NM_001854.4(COL11A1):c.3189G>A (p.Gly1063=) rs75915098
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398
NM_001854.4(COL11A1):c.3277-13A>C rs371455495
NM_001854.4(COL11A1):c.3294A>G (p.Gln1098=) rs1553210866
NM_001854.4(COL11A1):c.3384+18G>A rs200425985
NM_001854.4(COL11A1):c.3438+11T>C rs765352070
NM_001854.4(COL11A1):c.3495A>G (p.Gly1165=) rs1553208812
NM_001854.4(COL11A1):c.3600+8G>A rs188045535
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470
NM_001854.4(COL11A1):c.3708+182G>T
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062
NM_001854.4(COL11A1):c.3762+76G>C
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=) rs144729226
NM_001854.4(COL11A1):c.3925-11C>T rs192518657
NM_001854.4(COL11A1):c.3925-16C>T rs201491791
NM_001854.4(COL11A1):c.3979-10C>T rs1553200898
NM_001854.4(COL11A1):c.3979-3T>C rs138464908
NM_001854.4(COL11A1):c.4032+18T>C rs190625412
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674
NM_001854.4(COL11A1):c.4033-10C>T rs763204252
NM_001854.4(COL11A1):c.4033-12C>T rs745961028
NM_001854.4(COL11A1):c.4087-4A>G rs137999403
NM_001854.4(COL11A1):c.4140+10A>G
NM_001854.4(COL11A1):c.4140+10A>T rs187171126
NM_001854.4(COL11A1):c.4141-8T>A rs373760183
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505
NM_001854.4(COL11A1):c.426C>T (p.His142=) rs561435432
NM_001854.4(COL11A1):c.4302+219T>G
NM_001854.4(COL11A1):c.4303-100G>A
NM_001854.4(COL11A1):c.4303-312T>C
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=) rs138691968
NM_001854.4(COL11A1):c.483C>T (p.Asp161=) rs557000127
NM_001854.4(COL11A1):c.4859-19A>G rs146179957
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=) rs532113782
NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=) rs770392400
NM_001854.4(COL11A1):c.651+14C>T rs1553252290
NM_001854.4(COL11A1):c.652-17T>G rs555770298
NM_001854.4(COL11A1):c.81C>T (p.Leu27=) rs1027288806
NM_001854.4(COL11A1):c.828A>T (p.Ala276=) rs764926559
NM_001854.4(COL11A1):c.882A>G (p.Thr294=)
NM_001854.4(COL11A1):c.898-15T>C rs200242905
NM_001854.4(COL11A1):c.898-38T>A
NM_001854.4(COL11A1):c.990+11T>G rs750665036
NM_001854.4(COL11A1):c.990+69C>T
NM_001854.4(COL11A1):c.990+7C>T rs137867554

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