ClinVar Miner

List of variants studied for Neuroblastoma, susceptibility to, 3 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg) rs144030155 0.00023
NM_004304.5(ALK):c.1148A>T (p.Lys383Met) rs140928266 0.00020
NM_004304.5(ALK):c.4275G>A (p.Leu1425=) rs749418931 0.00014
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_004304.5(ALK):c.470C>T (p.Pro157Leu) rs775385954 0.00011
NM_004304.5(ALK):c.1390G>A (p.Gly464Arg) rs55706535 0.00008
NM_004304.5(ALK):c.1999G>A (p.Gly667Arg) rs539763601 0.00008
NM_004304.5(ALK):c.1184G>A (p.Arg395His) rs769910087 0.00006
NM_004304.5(ALK):c.3031G>A (p.Gly1011Arg) rs587778021 0.00005
NM_004304.5(ALK):c.350C>G (p.Pro117Arg) rs201290745 0.00005
NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr) rs376702277 0.00004
NM_004304.5(ALK):c.298A>G (p.Arg100Gly) rs764559656 0.00003
NM_004304.5(ALK):c.4481G>A (p.Gly1494Glu) rs368484630 0.00003
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr) rs758494304 0.00002
NM_004304.5(ALK):c.4210C>G (p.Leu1404Val) rs757615099 0.00002
NM_004304.5(ALK):c.2302G>A (p.Asp768Asn) rs766666105 0.00001
NM_004304.5(ALK):c.3130C>T (p.Leu1044Phe) rs1573128815 0.00001
NM_004304.5(ALK):c.3313A>G (p.Ile1105Val) rs1426033956 0.00001
NM_004304.5(ALK):c.3359+4A>G rs1573125072 0.00001
NM_004304.5(ALK):c.699G>A (p.Met233Ile) rs778129557 0.00001
NM_004304.5(ALK):c.1875T>G (p.Phe625Leu) rs1553402765
NM_004304.5(ALK):c.3116T>C (p.Val1039Ala) rs1663943658
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004304.5(ALK):c.4306C>T (p.Arg1436Cys) rs201129468
NM_004304.5(ALK):c.4442C>T (p.Ser1481Phe) rs1356575388
NM_004304.5(ALK):c.448A>C (p.Ile150Leu) rs1203267790

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