ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 48
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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.*1724A>C rs1554527
NM_152594.3(SPRED1):c.*248T>C rs16966842
NM_152594.3(SPRED1):c.*256C>T rs145373657
NM_152594.3(SPRED1):c.*2831G>A rs35490364
NM_152594.3(SPRED1):c.*2885G>A rs79309779
NM_152594.3(SPRED1):c.*3057A>G rs72725362
NM_152594.3(SPRED1):c.*3521A>G rs11634702
NM_152594.3(SPRED1):c.*3591C>T rs147489619
NM_152594.3(SPRED1):c.*3623G>T rs148525432
NM_152594.3(SPRED1):c.*3698T>G rs76527876
NM_152594.3(SPRED1):c.*3830G>A rs8039150
NM_152594.3(SPRED1):c.*3946G>A rs8039337
NM_152594.3(SPRED1):c.*3996G>A rs72725364
NM_152594.3(SPRED1):c.*427A>T rs185290497
NM_152594.3(SPRED1):c.*4662T>A rs10852019
NM_152594.3(SPRED1):c.*4932A>G rs16966843
NM_152594.3(SPRED1):c.*5090dup rs141174183
NM_152594.3(SPRED1):c.*5110C>T rs8026118
NM_152594.3(SPRED1):c.-156del rs531519324
NM_152594.3(SPRED1):c.-244T>C rs138385793
NM_152594.3(SPRED1):c.-93C>T rs192699510
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.1044T>C (p.Val348=) rs3751526
NM_152594.3(SPRED1):c.1146C>T (p.Asp382=) rs1286583801
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.124G>A (p.Val42Ile) rs147204964
NM_152594.3(SPRED1):c.177T>C (p.Phe59=) rs397517871
NM_152594.3(SPRED1):c.208-6T>C rs1241478218
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg) rs1555391042
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445
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.377-10A>G rs376134678
NM_152594.3(SPRED1):c.424-8C>A rs7180446
NM_152594.3(SPRED1):c.51G>A (p.Val17=) rs864622421
NM_152594.3(SPRED1):c.583-7A>G rs115970207
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile) rs769630742
NM_152594.3(SPRED1):c.684+10G>A rs1555392611
NM_152594.3(SPRED1):c.685-8T>C rs760690837
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.944C>T (p.Pro315Leu) rs115440602
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772

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