List of variants in gene CBL reported as pathogenic for RASopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	rs267606708	0.00002
NM_005188.4(CBL):c.1096-1G>T	rs397517076	0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	rs267606706	0.00001
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro)	rs1377506801	0.00001
NM_005188.2:c.1227+2_1227+3delTACinsAAG
NM_005188.4(CBL):c.1076_1087del (p.Asp359_Lys362del)	rs397507490
NM_005188.4(CBL):c.1096-1G>C	rs397517076
NM_005188.4(CBL):c.1096-4_1096-1del	rs397517077
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)	rs267606704
NM_005188.4(CBL):c.1227+2_1227+4delinsAAG	rs397507493
NM_005188.4(CBL):c.1228-2A>G	rs727504426

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