ClinVar Miner

List of variants studied for neuroblastoma, susceptibility to, 3 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) rs1670283 0.99030
NM_004304.5(ALK):c.1500A>G (p.Gln500=) rs2293564 0.79300
NM_004304.5(ALK):c.2535T>C (p.Gly845=) rs2256740 0.63034
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) rs1881421 0.47503
NM_004304.5(ALK):c.3036G>A (p.Thr1012=) rs2293563 0.17851
NM_004304.5(ALK):c.3408C>T (p.Ser1136=) rs56146053 0.02769
NM_004304.5(ALK):c.1427T>C (p.Val476Ala) rs35093491 0.02566
NM_004304.5(ALK):c.4596C>T (p.Asn1532=) rs1881422 0.01874
NM_004304.5(ALK):c.4203T>C (p.Tyr1401=) rs55772745 0.01865
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_004304.5(ALK):c.-5G>A rs56270786 0.01336
NM_004304.5(ALK):c.645T>C (p.Leu215=) rs115392387 0.00889
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_004304.5(ALK):c.3515+18C>T rs79325200 0.00409
NM_004304.5(ALK):c.2268C>T (p.Gly756=) rs149853746 0.00304
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) rs116202066 0.00232
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_004304.5(ALK):c.2915-9T>C rs373765395 0.00144
NM_004304.5(ALK):c.2148C>T (p.Ser716=) rs55733526 0.00096
NM_004304.5(ALK):c.469C>T (p.Pro157Ser) rs74774946 0.00055
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_004304.5(ALK):c.3102G>A (p.Ser1034=) rs138771319 0.00029
NM_004304.5(ALK):c.1148A>T (p.Lys383Met) rs140928266 0.00020
NM_004304.5(ALK):c.487G>T (p.Val163Leu) rs55697431 0.00019
NM_004304.5(ALK):c.3173-11C>T rs79339096 0.00013
NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr) rs370049091 0.00011
NM_004304.5(ALK):c.719A>G (p.Tyr240Cys) rs550608288 0.00005
NM_004304.5(ALK):c.2263C>A (p.His755Asn) rs925915337 0.00002
NM_004304.5(ALK):c.103G>A (p.Gly35Arg) rs2148443908
NM_004304.5(ALK):c.1155-20_1155-19del rs140451928
NM_004304.5(ALK):c.2456_2470dup (p.Gly823_Ala824insGlyGlyGlyGlyGly)
NM_004304.5(ALK):c.2550G>A (p.Gly850=) rs772710286
NM_004304.5(ALK):c.3600G>C (p.Ala1200=) rs56247462
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004304.5(ALK):c.702T>A (p.Pro234=) rs2246745

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