ClinVar Miner

List of variants in gene COL11A1 reported as benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.2556+96C>G rs2615978 0.93854
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.488+23G>A rs6668897 0.14061
NM_001854.4(COL11A1):c.275-7T>C rs12136865 0.14046
NM_001854.4(COL11A1):c.4608+18A>G rs17127203 0.12045
NM_001854.4(COL11A1):c.4303-47T>C rs11164634 0.11796
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.3978+38T>G rs28648038 0.09396
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663 0.08714
NM_001854.4(COL11A1):c.1308+19A>G rs34587338 0.08015
NM_001854.4(COL11A1):c.3025-23A>T rs55682104 0.07912
NM_001854.4(COL11A1):c.3168+15A>G rs1012281 0.05717
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_001854.4(COL11A1):c.1413+18A>T rs17461252 0.04131
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.651+16A>G rs116303092 0.01555
NM_001854.4(COL11A1):c.3924+19C>T rs77901108 0.01456
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_001854.4(COL11A1):c.4140+10A>T rs187171126 0.00906
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=) rs138691968 0.00097
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.2340+9_2340+13del rs374301870
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270

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