ClinVar Miner

List of variants in gene COL11A1 reported as likely benign for Fibrochondrogenesis

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Total variants: 56
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HGVS dbSNP
NM_001854.4(COL11A1):c.*1091A>T rs41292523
NM_001854.4(COL11A1):c.*1203G>A rs190577885
NM_001854.4(COL11A1):c.*1227T>A rs538679983
NM_001854.4(COL11A1):c.*17A>G rs190728953
NM_001854.4(COL11A1):c.*508G>A rs3088150
NM_001854.4(COL11A1):c.*579A>G rs536837264
NM_001854.4(COL11A1):c.*632G>A rs74108029
NM_001854.4(COL11A1):c.*687C>T rs186072680
NM_001854.4(COL11A1):c.*809C>T rs143875783
NM_001854.4(COL11A1):c.-188G>A rs372541219
NM_001854.4(COL11A1):c.-50A>G rs369810404
NM_001854.4(COL11A1):c.-78T>A rs12025921
NM_001854.4(COL11A1):c.1011A>T (p.Ile337=) rs563115409
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147
NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala) rs538837278
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939
NM_001854.4(COL11A1):c.1320C>T (p.Val440=) rs201585594
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) rs149558726
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006
NM_001854.4(COL11A1):c.1630-13T>C rs370547604
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420
NM_001854.4(COL11A1):c.1899+3A>G rs374676938
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164
NM_001854.4(COL11A1):c.2611-4C>T rs79505593
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=) rs143606220
NM_001854.4(COL11A1):c.3277-13A>C rs371455495
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=) rs144729226
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855
NM_001854.4(COL11A1):c.3979-14A>T rs186245518
NM_001854.4(COL11A1):c.3979-3T>C rs138464908
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006
NM_001854.4(COL11A1):c.4140+10A>T rs187171126
NM_001854.4(COL11A1):c.4140+13T>A rs374901069
NM_001854.4(COL11A1):c.4140+13del rs781736900
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505
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.4495C>T (p.Pro1499Ser) rs199952288
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.489-7T>G rs372555374
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=) rs74778421
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu) rs541676352
NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) rs202065765
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580
NM_001854.4(COL11A1):c.898-15T>C rs200242905
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519

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