ClinVar Miner

List of variants reported as uncertain significance for central nervous system neoplasm by Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_177438.3(DICER1):c.4616C>T (p.Thr1539Met) rs747901058 0.00013
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) rs373594744 0.00009
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) rs377470390 0.00008
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp) rs978856665 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_004304.5(ALK):c.623T>C (p.Ile208Thr) rs372226787 0.00001
NM_006231.4(POLE):c.5633G>A (p.Arg1878His) rs374022997 0.00001
NM_000038.6(APC):c.6125G>A (p.Cys2042Tyr)
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=) rs786204282
NM_000075.4(CDK4):c.683+8A>T rs1446831422
NM_000135.4(FANCA):c.1081A>G (p.Arg361Gly)
NM_000135.4(FANCA):c.3659C>T (p.Pro1220Leu)
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala) rs63751107
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) rs1554292741
NM_001321821.2(RAD51B):c.1275_1276dup (p.Ter426CysextTer?) rs1410470158
NM_005896.4(IDH1):c.976T>C (p.Ser326Pro) rs185564694
NM_006618.5(KDM5B):c.1536C>G (p.His512Gln)
NM_024675.4(PALB2):c.2586G>A (p.Lys862=)
NM_177438.3(DICER1):c.3713T>C (p.Leu1238Pro) rs1060503603

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