ClinVar Miner

List of variants in gene SMARCE1 reported as benign

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003079.5(SMARCE1):c.714+99G>A rs11654834 0.47332
NM_003079.5(SMARCE1):c.*110C>T rs757412 0.20378
NM_003079.5(SMARCE1):c.715-208A>G rs16966018 0.13104
NM_003079.5(SMARCE1):c.238-218C>T rs8070145 0.11138
NM_003079.5(SMARCE1):c.237+188G>A rs8075684 0.10758
NM_003079.5(SMARCE1):c.816+173C>G rs35695383 0.03105
NM_003079.5(SMARCE1):c.-45-7A>T rs759870374 0.02803
NM_003079.5(SMARCE1):c.1028-176A>G rs115785968 0.02568
NM_003079.5(SMARCE1):c.541+80A>T rs80319663 0.02145
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.1079G>A (p.Gly360Asp) rs142193069 0.00143
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.156+279_156+280del rs147503027
NM_003079.5(SMARCE1):c.238-4dup
NM_003079.5(SMARCE1):c.51+241dup rs35008210
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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