ClinVar Miner

List of variants reported as benign for Familial meningioma

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.1365+19T>C rs12414407 0.68248
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_016169.4(SUFU):c.1299T>C (p.Ile433=) rs17114803 0.14628
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter) rs62622817 0.00398
NM_003079.5(SMARCE1):c.369+12G>T rs58739414 0.00232
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_003079.5(SMARCE1):c.1101G>A (p.Lys367=) rs148666451 0.00066
NM_003079.5(SMARCE1):c.1028-18A>G rs202149619 0.00048
NM_003079.5(SMARCE1):c.351C>T (p.Asn117=) rs149613910 0.00041
NM_003079.5(SMARCE1):c.894A>G (p.Lys298=) rs759780963 0.00016
NM_003079.5(SMARCE1):c.369+10G>C rs199790447 0.00012
NM_003079.5(SMARCE1):c.954C>T (p.Ile318=) rs376628666 0.00005
NM_003079.5(SMARCE1):c.963G>A (p.Glu321=) rs753203502 0.00005
NM_016169.4(SUFU):c.645C>T (p.Asn215=) rs551772204 0.00001
NM_003079.5(SMARCE1):c.238-4dup
NM_003079.5(SMARCE1):c.541+14del rs766497450
NM_003079.5(SMARCE1):c.817-15dup rs747318581
NM_003079.5(SMARCE1):c.817-9del

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