ClinVar Miner

List of variants in gene NF2 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NC_000022.10:g.(?_30035073)_(30035207_?)del
NC_000022.10:g.(?_30050636)_(30050946_?)del
NC_000022.10:g.(?_30064316)_(30067943_?)del
NC_000022.10:g.(?_30074175)_(30077600_?)del
NC_000022.10:g.(?_30077422)_(30077596_?)dup
NC_000022.11:g.(?_29639090)_(29639212_?)del
NC_000022.11:g.(?_29668333)_(29671948_?)del
NC_000022.11:g.(?_29671816)_(29671958_?)del
NM_000268.4(NF2):c.1000-2A>G
NM_000268.4(NF2):c.114+1G>A rs2146661259
NM_000268.4(NF2):c.115-1G>A rs2065657938
NM_000268.4(NF2):c.1446+1G>A rs1601652425
NM_000268.4(NF2):c.593_599+317del
NM_000268.4(NF2):c.675+1G>A rs1555994854
NM_000268.4(NF2):c.675+1del rs2146990961
NM_000268.4(NF2):c.811-2A>G

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