List of variants in gene CBL studied for Noonan syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.1096-1G>T	rs397517076	0.00001
NM_005188.4(CBL):c.1096-1G>C	rs397517076
NM_005188.4(CBL):c.1096-4_1096-1del	rs397517077
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys)	rs727504504
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)	rs267606704
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)	rs267606706
NM_005188.4(CBL):c.1228-2A>G	rs727504426
NM_005188.4(CBL):c.2519G>C (p.Cys840Ser)	rs376536789

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