ClinVar Miner

List of variants reported as likely benign for Legius syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_152594.3(SPRED1):c.*1040G>A rs115568221
NM_152594.3(SPRED1):c.*1659_*1662del rs57589132
NM_152594.3(SPRED1):c.*2018T>G
NM_152594.3(SPRED1):c.*2247A>G
NM_152594.3(SPRED1):c.*2570T>C rs111997668
NM_152594.3(SPRED1):c.*2611C>T
NM_152594.3(SPRED1):c.*2885G>A rs79309779
NM_152594.3(SPRED1):c.*3057A>G rs72725362
NM_152594.3(SPRED1):c.*3561G>A
NM_152594.3(SPRED1):c.*3591C>T rs147489619
NM_152594.3(SPRED1):c.*3623G>T rs148525432
NM_152594.3(SPRED1):c.*4372A>G
NM_152594.3(SPRED1):c.*4697G>A
NM_152594.3(SPRED1):c.*5090dup rs141174183
NM_152594.3(SPRED1):c.*5202C>T rs541213700
NM_152594.3(SPRED1):c.*581T>C
NM_152594.3(SPRED1):c.*633A>G
NM_152594.3(SPRED1):c.-156del rs531519324
NM_152594.3(SPRED1):c.-191C>T rs556907443
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874

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