List of variants in gene CBL reported as likely 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys)	rs727504504
NM_005188.4(CBL):c.1100A>G (p.Gln367Arg)	rs267606704
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)	rs267606706
NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp)
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)	rs387906666
NM_005188.4(CBL):c.1112A>T (p.Tyr371Phe)	rs387906666
NM_005188.4(CBL):c.1112_1114del (p.Tyr371del)	rs2135303545
NM_005188.4(CBL):c.1156G>A (p.Glu386Lys)	rs1592400852
NM_005188.4(CBL):c.1193A>G (p.His398Arg)	rs1303812580

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