ClinVar Miner

List of variants reported as benign for Fibrochondrogenesis 1

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.2295+37A>T rs2622867 0.91369
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486 0.81716
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347 0.64340
NM_001854.4(COL11A1):c.2611-19A>C rs11164649 0.57301
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841 0.50032
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783 0.49335
NM_001854.4(COL11A1):c.274+42G>C rs11164662 0.48053
NM_001854.4(COL11A1):c.2656-28T>C rs1903787 0.32791
NM_001854.4(COL11A1):c.3168+41T>C rs1012282 0.29091
NM_001854.4(COL11A1):c.*1183A>G rs9659030 0.19114
NM_001854.4(COL11A1):c.275-7T>C rs12136865 0.14046
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966 0.11088
NM_001854.4(COL11A1):c.1998+4T>A rs12136577 0.10860
NM_001854.4(COL11A1):c.*105C>T rs1031820 0.10018
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663 0.08714
NM_001854.4(COL11A1):c.3025-23A>T rs55682104 0.07912
NM_001854.4(COL11A1):c.*1105C>T rs12073619 0.05971
NM_001854.4(COL11A1):c.3168+15A>G rs1012281 0.05717
NM_001854.4(COL11A1):c.*301A>G rs12731575 0.04880
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420 0.02418
NM_001854.4(COL11A1):c.1944+11T>C rs71664954 0.02235
NM_001854.4(COL11A1):c.-78T>A rs12025921 0.02079
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519 0.01140
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=) rs74778421 0.00956
NM_001854.4(COL11A1):c.4140+10A>T rs187171126 0.00906
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00897
NM_001854.4(COL11A1):c.*1322G>A rs139810625 0.00724
NM_001854.4(COL11A1):c.*632G>A rs74108029 0.00700
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=) rs143606220 0.00382
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_001854.4(COL11A1):c.4140+13T>A rs374901069 0.00214
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_001854.4(COL11A1):c.1792-39ATG[8] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-13dup rs34228277
NM_001854.4(COL11A1):c.4303-13del rs35232764
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
NM_080680.3(COL11A2):c.2484+13del rs55730247

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