ClinVar Miner

List of variants reported as uncertain significance for Legius syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 36
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HGVS dbSNP
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys) rs765603808
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile) rs373477920
NM_152594.3(SPRED1):c.1031A>G (p.His344Arg) rs376679136
NM_152594.3(SPRED1):c.1076T>A (p.Ile359Asn) rs763738243
NM_152594.3(SPRED1):c.115C>G (p.Leu39Val) rs1555389691
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe) rs779058019
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) rs1566877075
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His)
NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala)
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val) rs200871227
NM_152594.3(SPRED1):c.135C>G (p.Phe45Leu)
NM_152594.3(SPRED1):c.149A>T (p.Gln50Leu)
NM_152594.3(SPRED1):c.178A>G (p.Ile60Val) rs761830220
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys)
NM_152594.3(SPRED1):c.182G>A (p.Arg61His) rs750686148
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe) rs1412213561
NM_152594.3(SPRED1):c.274T>C (p.Trp92Arg) rs1566867214
NM_152594.3(SPRED1):c.287A>G (p.Asp96Gly) rs1555391039
NM_152594.3(SPRED1):c.302T>C (p.Leu101Pro)
NM_152594.3(SPRED1):c.302T>G (p.Leu101Arg)
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.315T>G (p.Ser105Arg) rs1566867263
NM_152594.3(SPRED1):c.376+9T>G rs1555391063
NM_152594.3(SPRED1):c.395A>G (p.Asn132Ser)
NM_152594.3(SPRED1):c.401C>G (p.Ala134Gly)
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln)
NM_152594.3(SPRED1):c.406G>A (p.Gly136Arg) rs1555391158
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val) rs1060502504
NM_152594.3(SPRED1):c.538G>T (p.Asp180Tyr) rs1375474473
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792
NM_152594.3(SPRED1):c.683G>A (p.Arg228Lys)
NM_152594.3(SPRED1):c.685G>T (p.Val229Phe) rs201837340
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly) rs1057524159
NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg) rs1427402192
NM_152594.3(SPRED1):c.974G>A (p.Arg325Gln) rs1238094530
NM_152594.3(SPRED1):c.995G>A (p.Arg332His) rs779966392

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