List of variants reported as pathogenic for Legius syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 107

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HGVS	dbSNP	gnomAD frequency
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys)	rs765788978	0.00002
NM_152594.3(SPRED1):c.304dup (p.Thr102fs)	rs1555391053	0.00001
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)	rs1057517941	0.00001
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)	rs121434313	0.00001
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter)	rs1172820756	0.00001
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter)	rs1057518683	0.00001
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
NC_000015.10:g.38351008_38351021T[4]AGGTCCCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGACCATCTTGGCTCCTCCCCTTTTAGGTCCCTTT[1]
NC_000015.9:g.(?_38545367)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38591768_?)del
NC_000015.9:g.(?_38545387)_(38643865_?)del
NC_000015.9:g.(?_38591564)_(38591758_?)del
NC_000015.9:g.(?_38591564)_(38632106_?)del
NC_000015.9:g.(?_38591568)_(38643870_?)del
NC_000015.9:g.(?_38614422)_(38617030_?)del
NM_152594.3(SPRED1):c.1005C>A (p.Cys335Ter)
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter)	rs2141016437
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter)	rs1566876895
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)	rs2542743623
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)	rs2542743630
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs)	rs1566876929
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs)	rs2141016462
NM_152594.3(SPRED1):c.1053del (p.Lys351fs)	rs1566876954
NM_152594.3(SPRED1):c.1073del (p.Pro358fs)	rs2542743797
NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs)	rs2542743874
NM_152594.3(SPRED1):c.1098_1099dup (p.Ser367fs)
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs)	rs1555392783
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)	rs2542743989
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs)	rs2141016553
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter)	rs2542744037
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)	rs2542744046
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)	rs1595763925
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs)	rs878855228
NM_152594.3(SPRED1):c.1151del (p.Glu384fs)	rs1595763928
NM_152594.3(SPRED1):c.1154del (p.Gly385fs)
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter)	rs1345810751
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter)	rs1201851975
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)	rs1888489281
NM_152594.3(SPRED1):c.1224del (p.Ala409fs)	rs2542744343
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs)	rs2141016685
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs)	rs2542744385
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs)	rs2141016692
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter)	rs148646547
NM_152594.3(SPRED1):c.177del (p.Phe59fs)	rs1895110802
NM_152594.3(SPRED1):c.177dup (p.Ile60fs)	rs1895110802
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter)	rs121434315
NM_152594.3(SPRED1):c.1A>G (p.Met1Val)	rs1894017295
NM_152594.3(SPRED1):c.207+1G>T	rs1595733611
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter)	rs727504170
NM_152594.3(SPRED1):c.234dup (p.Asp79fs)	rs1566867209
NM_152594.3(SPRED1):c.244_245insGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGACCTCATTT (p.Tyr82delinsTrpSerGlyAspArgAspHisProGlyTer)
NM_152594.3(SPRED1):c.272del (p.His91fs)	rs2542695643
NM_152594.3(SPRED1):c.282_285del (p.Ile94fs)
NM_152594.3(SPRED1):c.291del (p.Lys98fs)	rs1595746804
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs)	rs1566867246
NM_152594.3(SPRED1):c.304_334del (p.Thr102fs)
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg)	rs754706111
NM_152594.3(SPRED1):c.305del (p.Thr102fs)	rs2140994872
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.328del (p.Arg110fs)	rs2542695865
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs)	rs1555391061
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs)	rs2542695902
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)	rs121434312
NM_152594.3(SPRED1):c.355dup (p.Ala119fs)	rs1895621783
NM_152594.3(SPRED1):c.373C>T (p.Gln125Ter)
NM_152594.3(SPRED1):c.384dup (p.Glu129fs)	rs1566868022
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter)	rs764823722
NM_152594.3(SPRED1):c.395dup (p.Asn132fs)	rs1895677481
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile)	rs1324903101
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)	rs2542700259
NM_152594.3(SPRED1):c.40del (p.Tyr14fs)	rs2140978331
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter)	rs1060502505
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)	rs764234046
NM_152594.3(SPRED1):c.461del (p.Asp154fs)	rs2542723633
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)	rs2542723735
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)	rs750777752
NM_152594.3(SPRED1):c.561C>A (p.Tyr187Ter)
NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)	rs200142785
NM_152594.3(SPRED1):c.580C>T (p.Gln194Ter)
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter)	rs2141014847
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter)	rs368660900
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.684+1G>T	rs752775519
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer)	rs2141016007
NM_152594.3(SPRED1):c.696del (p.Lys232fs)	rs2542742348
NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)	rs2542742417
NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter)	rs2542742440
NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter)	rs1888473716
NM_152594.3(SPRED1):c.794dup (p.Asp265fs)	rs2141016108
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.841C>T (p.Gln281Ter)	rs755557783
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)	rs1424526290
NM_152594.3(SPRED1):c.87_88dup (p.Gly30fs)
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter)	rs1595763656
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs)	rs1595763662
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs)	rs1595763659
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs)	rs1555392759
NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)	rs2542660907
NM_152594.3(SPRED1):c.976A>T (p.Arg326Ter)

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