List of variants in gene CBL reported as benign for RASopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.1095+19G>T	rs2510152	0.61865
NM_005188.4(CBL):c.2592C>T (p.Leu864=)	rs1893177	0.03391
NM_005188.4(CBL):c.869+4A>G	rs77284821	0.02038
NM_005188.4(CBL):c.513T>C (p.Ser171=)	rs2227987	0.00741
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.2345C>T (p.Pro782Leu)	rs2229073	0.00281
NM_005188.4(CBL):c.869+19A>G	rs181589369	0.00232
NM_005188.4(CBL):c.1359A>C (p.Pro453=)	rs34732429	0.00188
NM_005188.4(CBL):c.870-19del	rs548130600	0.00185
NM_005188.4(CBL):c.2484G>A (p.Pro828=)	rs149533467	0.00166
NM_005188.4(CBL):c.2190G>C (p.Thr730=)	rs143840974	0.00137
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)	rs2227988	0.00121
NM_005188.4(CBL):c.2466G>A (p.Arg822=)	rs556564719	0.00114
NM_005188.4(CBL):c.1227+20dup	rs530081144	0.00095
NM_005188.4(CBL):c.2036+9G>T	rs142704935	0.00076
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.1227+4C>T	rs201747825	0.00048
NM_005188.4(CBL):c.1564-13C>T	rs117902985	0.00039
NM_005188.4(CBL):c.590+20A>G	rs769677676	0.00009
NM_005188.4(CBL):c.195+13C>T	rs893347300	0.00008
NM_005188.4(CBL):c.1299G>A (p.Pro433=)	rs199633558	0.00007
NM_005188.4(CBL):c.1643C>T (p.Pro548Leu)	rs17848897	0.00006
NM_005188.4(CBL):c.2252-8T>C	rs555179188	0.00006
NM_005188.4(CBL):c.1777C>T (p.Arg593Trp)	rs776999573	0.00002
NM_005188.2:c.1227+20insC
NM_005188.2:c.1228-10insT
NM_005188.4(CBL):c.1228-10dup	rs397517078
NM_005188.4(CBL):c.1228-20_1228-17del	rs370327162
NM_005188.4(CBL):c.1432-12del
NM_005188.4(CBL):c.1629A>G (p.Pro543=)	rs558577411
NM_005188.4(CBL):c.2251+14_2251+22del	rs568433114
NM_005188.4(CBL):c.747+16del	rs2135299171

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