ClinVar Miner

List of variants reported as pathogenic for childhood malignant neoplasm

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
LMNA-NTRK1 fusion
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile) rs121913675
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg) rs121913677
NM_000245.4(MET):c.3750G>A (p.Met1250Ile) rs121913676
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter) rs137852977
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter) rs137852979
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.3(DICER1):c.2392dup (p.Thr798fs) rs886037690
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter) rs137852978
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter) rs1060503605
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter) rs1595314576

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