ClinVar Miner

List of variants reported as uncertain significance for Familial meningioma by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000268.4(NF2):c.676-104G>A rs1040559021 0.00001
NM_002608.4(PDGFB):c.716T>C (p.Leu239Pro) rs1932148548 0.00001
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) rs1589640376
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro) rs1057518538
NM_003079.5(SMARCE1):c.34A>C (p.Thr12Pro) rs2037247946
NM_016169.4(SUFU):c.331G>C (p.Asp111His) rs1590018865

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