List of variants reported as pathogenic for Legius syndrome by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 37

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HGVS	dbSNP
NC_000015.10:g.(?_38253166)_(39021201_?)del
NC_000015.10:g.(?_38253180)_(38351670_?)del
NC_000015.10:g.(?_38253186)_(38253227_?)del
NC_000015.10:g.(?_38299363)_(38324819_?)del
NC_000015.10:g.(?_38299373)_(38357249_?)del
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs)	rs1566876929
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)	rs1595763925
NM_152594.3(SPRED1):c.1151del (p.Glu384fs)	rs1595763928
NM_152594.3(SPRED1):c.177dup (p.Ile60fs)
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)	rs1595746834
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer)	rs1595746858
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.355dup (p.Ala119fs)
NM_152594.3(SPRED1):c.384dup (p.Glu129fs)	rs1566868022
NM_152594.3(SPRED1):c.395dup (p.Asn132fs)
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter)	rs1060502505
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.619A>T (p.Arg207Ter)
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter)	rs121434316
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.796_797del (p.Met266fs)	rs864622410
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter)	rs1595763557
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter)	rs1595763656
NM_152594.3(SPRED1):c.901_905AAGTT[1] (p.Leu302fs)	rs1595763659
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs)	rs1595763662
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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