ClinVar Miner

List of variants studied for Neuroblastoma, susceptibility to, 3 by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 8
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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.1427T>C (p.Val476Ala) rs35093491 0.02525
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01289
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405 0.00104
NM_004304.5(ALK):c.3633C>A (p.Thr1211=) rs144437923 0.00021

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