ClinVar Miner

List of variants reported as benign for Legius syndrome by Invitae

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_152594.3(SPRED1):c.207+15A>G rs377288061 0.00073
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_152594.3(SPRED1):c.32+20C>T rs374284804 0.00004
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467 0.00002
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn) rs373384814 0.00001
NM_152594.3(SPRED1):c.582+22del

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