List of variants in gene ALK reported as pathogenic by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)	rs113994088
NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)	rs281864719
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)	rs281864719
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)	rs281864719
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)	rs863225281
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)	rs863225281
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)	rs113994089
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)	rs281864720
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)	rs863225283
NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu)	rs863225284
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)	rs113994087
NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)	rs863225285

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