ClinVar Miner

List of variants in gene SPRED1 reported as pathogenic for Legius syndrome

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Total variants: 35
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HGVS dbSNP
NC_000015.9:g.(?_38545381)_(38643871_?)del
NC_000015.9:g.(?_38591574)_(38649450_?)del
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter) rs1555389690
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs) rs1566876929
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
NM_152594.3(SPRED1):c.1053del (p.Lys351fs) rs1566876954
NM_152594.3(SPRED1):c.1095_1098AGTT[1] (p.Ser367fs) rs1555392783
NM_152594.3(SPRED1):c.1149_1150AG[1] (p.Glu384fs) rs878855228
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
NM_152594.3(SPRED1):c.1151del (p.Glu384fs)
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp) rs121434318
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) rs1566867209
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs) rs1566867246
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs)
NM_152594.3(SPRED1):c.340_341AG[1] (p.Gly115fs) rs1555391061
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.384dup (p.Glu129fs) rs1566868022
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter) rs1060502505
NM_152594.3(SPRED1):c.423+1G>A rs1566868058
NM_152594.3(SPRED1):c.423+2T>C rs1555391161
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter) rs121434316
NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter) rs121434314
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter) rs1555392609
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter) rs121434317
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs) rs1555386651
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter)
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter)
NM_152594.3(SPRED1):c.921_922CT[1] (p.Ser308fs) rs1555392759
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683

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