List of variants in gene CBL, LOC130006895 studied for Noonan syndrome and Noonan-related syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.6C>G (p.Ala2=)	rs770473070	0.00006
NM_005188.4(CBL):c.16A>C (p.Lys6Gln)	rs746355406	0.00001
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	rs373212940
NM_005188.4(CBL):c.77T>C (p.Ile26Thr)	rs2135244100

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