ClinVar Miner

List of variants studied for RASopathy by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.122A>T (p.Glu41Val) rs786203038
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.238del (p.Tyr80fs) rs2065717116
NM_001042492.3(NF1):c.288+1G>T rs1567816131
NM_001042492.3(NF1):c.3049C>T (p.Gln1017Ter) rs2067091604
NM_001042492.3(NF1):c.598A>T (p.Lys200Ter) rs2066130986
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.7458-17T>G rs766585105

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