ClinVar Miner

List of variants in gene combination LOC108281181, NF1 reported as pathogenic by Medical Genomics Laboratory, Department of Genetics UAB

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000267.3(NF1):c.480-2832_888+5938delinsTTGAA
NM_000267.3(NF1):c.586+2095_1261-2276delinsGTGG
NM_000267.3(NF1):c.586+3099_1261-1045del
NM_000267.3(NF1):c.655-60_888+5621delins135
NM_001042492.3(NF1):c.587-1766_888+1856del

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