List of variants reported as benign for CBL-related disorder

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 89

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.*4931T>C	rs2510145	0.99416
NM_005188.4(CBL):c.870-48G>C	rs2511854	0.62073
NM_005188.4(CBL):c.1095+19G>T	rs2510152	0.61865
NM_005188.4(CBL):c.*4584C>A	rs2509671	0.41211
NM_005188.4(CBL):c.*7447A>G	rs11217234	0.24836
NM_005188.4(CBL):c.*2045A>G	rs1047417	0.23910
NM_005188.3(CBL):c.-125C>T	rs7108857	0.22743
NM_005188.4(CBL):c.*5907T>C	rs2511844	0.16216
NM_005188.4(CBL):c.*1915T>C	rs1918	0.09984
NM_005188.4(CBL):c.*6008T>C	rs3829261	0.06150
NM_005188.4(CBL):c.*4085C>G	rs11604328	0.05229
NM_005188.4(CBL):c.2592C>T (p.Leu864=)	rs1893177	0.03391
NM_005188.4(CBL):c.*8149A>G	rs11243	0.03092
NM_005188.4(CBL):c.*7978A>G	rs2511836	0.03043
NM_005188.4(CBL):c.869+4A>G	rs77284821	0.02038
NM_005188.4(CBL):c.*3096C>G	rs150053029	0.01735
NM_005188.4(CBL):c.*5648T>C	rs79889393	0.01326
NM_005188.4(CBL):c.*4302C>T	rs114801312	0.01320
NM_005188.4(CBL):c.*3167G>A	rs145419944	0.01317
NM_005188.4(CBL):c.*2423C>T	rs117804312	0.01166
NM_005188.4(CBL):c.*1856T>C	rs75631490	0.00922
NM_005188.4(CBL):c.*4868T>C	rs150159135	0.00899
NM_005188.4(CBL):c.*3854G>A	rs115544781	0.00896
NM_005188.3(CBL):c.-96G>A	rs548262208	0.00881
NM_005188.4(CBL):c.513T>C (p.Ser171=)	rs2227987	0.00741
NM_005188.4(CBL):c.*5123C>T	rs149560809	0.00733
NM_005188.4(CBL):c.*4088C>T	rs140837295	0.00731
NM_005188.4(CBL):c.*8048G>A	rs151221935	0.00721
NM_005188.4(CBL):c.*1447A>G	rs148077385	0.00548
NM_005188.4(CBL):c.1485G>A (p.Pro495=)	rs2229072	0.00547
NM_005188.4(CBL):c.2710G>A (p.Val904Ile)	rs17122769	0.00454
NM_005188.4(CBL):c.*5632C>T	rs143069410	0.00384
NM_005188.4(CBL):c.*2176T>C	rs143211426	0.00375
NM_005188.4(CBL):c.*4031C>G	rs117973382	0.00313
NM_005188.4(CBL):c.*567G>A	rs573261482	0.00285
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)	rs2229073	0.00281
NM_005188.3(CBL):c.-106G>A	rs569014495	0.00249
NM_005188.4(CBL):c.869+19A>G	rs181589369	0.00232
NM_005188.4(CBL):c.*3656C>T	rs145348523	0.00225
NM_005188.4(CBL):c.*1686A>C	rs147266033	0.00194
NM_005188.4(CBL):c.*6648T>G	rs544221090	0.00176
NM_005188.4(CBL):c.2484G>A (p.Pro828=)	rs149533467	0.00166
NM_005188.4(CBL):c.*4118A>G	rs192175025	0.00155
NM_005188.4(CBL):c.*1594T>A	rs193152909	0.00153
NM_005188.4(CBL):c.*5756G>A	rs542978255	0.00148
NM_005188.4(CBL):c.2190G>C (p.Thr730=)	rs143840974	0.00137
NM_005188.4(CBL):c.*6732C>A	rs140028176	0.00135
NM_005188.4(CBL):c.*5718C>A	rs572014227	0.00123
NM_005188.4(CBL):c.*5717T>G	rs547307186	0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)	rs2227988	0.00121
NM_005188.4(CBL):c.*239A>G	rs140332874	0.00095
NM_005188.4(CBL):c.*7366C>T	rs534426893	0.00086
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)	rs146517083	0.00076
NM_005188.4(CBL):c.1641T>C (p.Pro547=)	rs61755280	0.00074
NM_005188.4(CBL):c.*3154C>T	rs112984401	0.00073
NM_005188.4(CBL):c.*3578A>T	rs140313356	0.00058
NM_005188.4(CBL):c.*5987A>T	rs150688966	0.00056
NM_005188.4(CBL):c.*1933C>T	rs529781104	0.00050
NM_005188.4(CBL):c.*7143A>C	rs146650854	0.00048
NM_005188.4(CBL):c.*5811C>T	rs569624112	0.00046
NM_005188.4(CBL):c.*2697C>T	rs118116976	0.00042
NM_005188.4(CBL):c.*2619C>T	rs147497664	0.00039
NM_005188.4(CBL):c.*513A>G	rs138124151	0.00039
NM_005188.4(CBL):c.*7314T>C	rs144022588	0.00039
NM_005188.4(CBL):c.1564-13C>T	rs117902985	0.00039
NM_005188.4(CBL):c.*337A>C	rs570986029	0.00038
NM_005188.4(CBL):c.*39G>A	rs17848890	0.00035
NM_005188.4(CBL):c.*7678G>A	rs540742677	0.00023
NM_005188.4(CBL):c.*6542T>G	rs550863116	0.00020
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)	rs146250423	0.00019
NM_005188.4(CBL):c.*8017G>A	rs533150203	0.00013
NM_005188.4(CBL):c.1459A>G (p.Met487Val)	rs17848896	0.00012
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)	rs146705974	0.00012
NM_005188.4(CBL):c.*1158A>G	rs560822342	0.00010
NM_005188.4(CBL):c.*329A>G	rs145498486	0.00009
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe)	rs201631570	0.00008
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe)	rs2227986	0.00006
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)	rs538054260	0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu)	rs369030902	0.00005
NM_005188.4(CBL):c.*2147C>G	rs574006776	0.00002
NM_005188.4(CBL):c.*7903G>A	rs201889676	0.00001
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu)	rs774428573	0.00001
NM_005188.4(CBL):c.839G>A (p.Arg280Gln)	rs145155035	0.00001
NM_005188.4(CBL):c.365_366insGG	rs397958007
NM_005188.4(CBL):c.*7559C>G	rs1052121
NM_005188.4(CBL):c.*7578TC[1]	rs376134331
NM_005188.4(CBL):c.*7949C>A	rs142183037
NM_005188.4(CBL):c.*8012T>C	rs573686690
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	rs373212940

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