ClinVar Miner

List of variants studied for neurofibromatosis by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_001042492.3(NF1):c.226G>T (p.Glu76Ter)
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.4818_4822del (p.Phe1606fs) rs1555619413
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900

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