List of variants in gene CBL reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.1095+19G>T	rs2510152	0.61865
NM_005188.4(CBL):c.869+4A>G	rs77284821	0.02038
NM_005188.4(CBL):c.513T>C (p.Ser171=)	rs2227987	0.00741
NM_005188.4(CBL):c.1485G>A (p.Pro495=)	rs2229072	0.00547
NM_005188.4(CBL):c.2710G>A (p.Val904Ile)	rs17122769	0.00454
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)	rs2229073	0.00281
NM_005188.4(CBL):c.1359A>C (p.Pro453=)	rs34732429	0.00188
NM_005188.4(CBL):c.870-19del	rs548130600	0.00185
NM_005188.4(CBL):c.2484G>A (p.Pro828=)	rs149533467	0.00166
NM_005188.4(CBL):c.2190G>C (p.Thr730=)	rs143840974	0.00137
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)	rs2227988	0.00121
NM_005188.4(CBL):c.1227+20dup	rs530081144	0.00095
NM_005188.4(CBL):c.2036+9G>T	rs142704935	0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)	rs146517083	0.00076
NM_005188.4(CBL):c.1227+4C>T	rs201747825	0.00048
NM_005188.4(CBL):c.-5A>G	rs552214111	0.00013
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr)	rs141710973	0.00010
NM_005188.4(CBL):c.1566T>C (p.Ala522=)	rs371065029	0.00009
NM_005188.4(CBL):c.2252-8T>C	rs555179188	0.00006
NM_005188.4(CBL):c.1920G>A (p.Thr640=)	rs202158626	0.00003
NM_005188.4(CBL):c.1227+5G>A	rs756550704	0.00001
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)	rs267606706
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)	rs397507494
NM_005188.4(CBL):c.1629A>G (p.Pro543=)	rs558577411
NM_005188.4(CBL):c.2606A>G (p.Tyr869Cys)

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