ClinVar Miner

Variants in gene NF2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_000268.4(NF2):c.1737+2098A>G rs75296199 0.00053
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000268.4(NF2):c.240+15C>T rs200701337 0.00014
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_000268.4(NF2):c.1385G>A (p.Arg462His) rs373650983 0.00011
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477 0.00009
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164 0.00004
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248 0.00004
NM_000268.4(NF2):c.325C>T (p.Leu109=) rs201603384 0.00004
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504 0.00003
NM_000268.4(NF2):c.599+3G>A rs768301915 0.00002
NM_000268.4(NF2):c.600-13G>A rs374509697 0.00002
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176 0.00001
NM_000268.4(NF2):c.150G>A (p.Val50=) rs1601578932
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg) rs1379683835

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