ClinVar Miner

List of variants in gene ALK reported by ITMI

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) rs1670283 0.99121
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) rs1881421 0.47503
NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg) rs1881420 0.27815
NM_004304.5(ALK):c.1427T>C (p.Val476Ala) rs35093491 0.02525
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) rs116202066 0.00232
NM_004304.5(ALK):c.592G>A (p.Val198Met) rs77677701 0.00202
NM_004304.5(ALK):c.776G>A (p.Arg259His) rs138686378 0.00096
NM_004304.5(ALK):c.4796C>A (p.Pro1599His) rs1881423 0.00080
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_004304.5(ALK):c.106C>T (p.Pro36Ser) rs201490095 0.00051
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu) rs140733978 0.00050
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys) rs56181542 0.00046
NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr) rs201768549 0.00028
NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr) rs370049091 0.00025
NM_004304.5(ALK):c.4573A>G (p.Lys1525Glu) rs139437088 0.00024
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg) rs144030155 0.00023
NM_004304.5(ALK):c.3035C>T (p.Thr1012Met) rs35073634 0.00021
NM_004304.5(ALK):c.487G>T (p.Val163Leu) rs55697431 0.00019
NM_004304.5(ALK):c.1111G>A (p.Ala371Thr) rs149968229 0.00011
NM_004304.5(ALK):c.808T>C (p.Phe270Leu) rs143229596 0.00011
NM_004304.5(ALK):c.1215A>T (p.Glu405Asp) rs370235133 0.00009
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln) rs72852032 0.00007
NM_004304.5(ALK):c.3031G>A (p.Gly1011Arg) rs587778021 0.00005
NM_004304.5(ALK):c.2127C>A (p.Asn709Lys) rs376175333 0.00003
NM_004304.5(ALK):c.4416A>T (p.Glu1472Asp) rs538459690 0.00001
NM_004304.5(ALK):c.522C>A (p.Phe174Leu) rs587778020 0.00001
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) rs61754865
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116

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