ClinVar Miner

List of variants in gene ALK reported as pathogenic for Neuroblastoma

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) rs113994091 0.00004
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) rs864309584 0.00001
NM_004304.5(ALK):c.3512T>A (p.Ile1171Asn) rs1057519698
NM_004304.5(ALK):c.3512T>C (p.Ile1171Thr) rs1057519698
NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile) rs281864719
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) rs281864719
NM_004304.5(ALK):c.3521T>G (p.Phe1174Cys) rs1057519697
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) rs863225281
NM_004304.5(ALK):c.3733T>G (p.Phe1245Val) rs281864720
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys) rs863225283
NM_004304.5(ALK):c.3735C>G (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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