ClinVar Miner

List of variants reported as likely pathogenic for Neuroblastoma

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Total variants: 34
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HGVS dbSNP
NM_000546.5(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_000546.5(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000546.5(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.5(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.5(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001128849.2(SMARCA4):c.535C>T (p.Gln179Ter) rs1469271544
NM_002467.6(MYC):c.173C>T (p.Pro58Leu) rs1057519918
NM_002467.6(MYC):c.217A>C (p.Thr73Pro) rs750664148
NM_002467.6(MYC):c.218C>T (p.Thr73Ile) rs756091827
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
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>G (p.Phe1174Leu) rs863225281
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
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.3824G>T (p.Arg1275Leu) rs113994087
NM_005378.6(MYCN):c.131C>T (p.Pro44Leu) rs1057519919
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg) rs1057519935
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_015074.3(KIF1B):c.3649C>T (p.Pro1217Ser) rs121908163
NM_023110.2(FGFR1):c.1543A>G (p.Met515Val) rs1057519899
NM_023110.2(FGFR1):c.1636A>G (p.Asn546Asp) rs1057519898
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422

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