ClinVar Miner

List of variants in gene ALK reported as likely pathogenic

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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3455T>G (p.Leu1152Arg) rs1057519785
NM_004304.5(ALK):c.3497T>G (p.Met1166Arg) rs1057520019
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu) 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.3586C>A (p.Leu1196Met) rs1057519784
NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg) rs1057519783
NM_004304.5(ALK):c.3617C>A (p.Ser1206Tyr) rs1057519782
NM_004304.5(ALK):c.3718T>G (p.Leu1240Val) rs863225282
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile) rs281864720
NM_004304.5(ALK):c.3733T>C (p.Phe1245Leu) rs281864720
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) rs113994092
NM_004304.5(ALK):c.3806G>C (p.Gly1269Ala) rs1057519781
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004304.5(ALK):c.3824G>T (p.Arg1275Leu) rs113994087

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