List of variants in gene CBL reported as pathogenic for connective tissue neoplasm

Minimum submission review status:		Collection method:
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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	rs267606706	0.00001
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	rs267606708	0.00001
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)	rs387906666
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys)	rs387906666
NM_005188.4(CBL):c.1228-2A>G	rs727504426

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