ClinVar Miner

List of variants in gene SPRED1 reported as likely benign for Legius syndrome

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Total variants: 65
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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.1005C>T (p.Cys335=) rs768937237
NM_152594.3(SPRED1):c.1008A>G (p.Val336=) rs1555392775
NM_152594.3(SPRED1):c.1080A>G (p.Lys360=)
NM_152594.3(SPRED1):c.1176G>A (p.Ser392=) rs755223172
NM_152594.3(SPRED1):c.1191C>T (p.Asp397=) rs749745659
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn) rs771480941
NM_152594.3(SPRED1):c.1194C>T (p.Asp398=)
NM_152594.3(SPRED1):c.1215A>G (p.Leu405=) rs1595764001
NM_152594.3(SPRED1):c.123C>T (p.Ser41=)
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964
NM_152594.3(SPRED1):c.1260C>T (p.Tyr420=)
NM_152594.3(SPRED1):c.1278C>T (p.Cys426=)
NM_152594.3(SPRED1):c.15G>C (p.Thr5=)
NM_152594.3(SPRED1):c.174T>C (p.Phe58=) rs1595733589
NM_152594.3(SPRED1):c.177T>C (p.Phe59=) rs397517871
NM_152594.3(SPRED1):c.208-10C>G
NM_152594.3(SPRED1):c.208-6T>C rs1241478218
NM_152594.3(SPRED1):c.279G>A (p.Lys93=)
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg) rs1555391042
NM_152594.3(SPRED1):c.306G>A (p.Thr102=) rs372791883
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618
NM_152594.3(SPRED1):c.321T>C (p.Ala107=) rs770197803
NM_152594.3(SPRED1):c.33-7A>G rs760850290
NM_152594.3(SPRED1):c.348C>T (p.Ile116=)
NM_152594.3(SPRED1):c.376+10C>A
NM_152594.3(SPRED1):c.377-10A>G rs376134678
NM_152594.3(SPRED1):c.384C>T (p.Pro128=) rs761058615
NM_152594.3(SPRED1):c.424-5A>G rs752656697
NM_152594.3(SPRED1):c.510C>T (p.Ser170=)
NM_152594.3(SPRED1):c.51G>A (p.Val17=) rs864622421
NM_152594.3(SPRED1):c.552A>G (p.Arg184=)
NM_152594.3(SPRED1):c.594T>C (p.Gly198=) rs756643495
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile) rs769630742
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225
NM_152594.3(SPRED1):c.684+10G>A rs1555392611
NM_152594.3(SPRED1):c.685-8T>C rs760690837
NM_152594.3(SPRED1):c.687C>A (p.Val229=)
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244
NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg) rs554327738
NM_152594.3(SPRED1):c.915C>G (p.Pro305=)
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874
NM_152594.3(SPRED1):c.939G>T (p.Thr313=)
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) rs115440602
NM_152594.3(SPRED1):c.948C>G (p.Ser316=) rs1595763720
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772
NM_152594.3(SPRED1):c.9G>A (p.Glu3=)

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