ClinVar Miner

List of variants in gene NF2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504 0.00003
NM_000268.4(NF2):c.1678A>G (p.Ile560Val) rs557347747 0.00001
NM_000268.4(NF2):c.1767G>A (p.Val589=) rs754168138 0.00001
NM_000268.4(NF2):c.363+5A>G rs1361659919 0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371 0.00001
GRCh37/hg19 22q12.2(chr22:30090741-30090791)x1
NM_000268.4(NF2):c.100_117del (p.Glu34_Met39del) rs2064717929
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.4(NF2):c.1732A>G (p.Lys578Glu) rs2147123687
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.812T>G (p.Phe271Cys) rs1555997533

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