ClinVar Miner

List of variants in gene SMARCE1 reported as benign for Familial meningioma

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter) rs62622817 0.00398
NM_003079.5(SMARCE1):c.369+12G>T rs58739414 0.00232
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_003079.5(SMARCE1):c.541+14del rs766497450
NM_003079.5(SMARCE1):c.817-15dup rs747318581

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