ClinVar Miner

List of variants reported as pathogenic for Legius syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP
NC_000015.10:g.(?_38253166)_(39021201_?)del
NC_000015.10:g.(?_38253180)_(38351670_?)del
NC_000015.10:g.(?_38299373)_(38357249_?)del
NM_152594.2(SPRED1):c.1044_1046delTAGinsC (p.Arg349Glyfs)
NM_152594.2(SPRED1):c.1053delA (p.Lys351Asnfs)
NM_152594.2(SPRED1):c.1099_1102delAGTT (p.Ser367Alafs) rs1555392783
NM_152594.2(SPRED1):c.1151_1152delAG (p.Glu384Glyfs) rs878855228
NM_152594.2(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.2(SPRED1):c.234dup (p.Asp79Argfs)
NM_152594.2(SPRED1):c.301_307delCTTACGT (p.Leu101Phefs)
NM_152594.2(SPRED1):c.304dup (p.Thr102Asnfs) rs1555391053
NM_152594.2(SPRED1):c.342_343delAG (p.Gly115Tyrfs) rs1555391061
NM_152594.2(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.2(SPRED1):c.384dup (p.Glu129Argfs)
NM_152594.2(SPRED1):c.421C>T (p.Gln141Ter) rs1060502505
NM_152594.2(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941
NM_152594.2(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.2(SPRED1):c.676C>T (p.Gln226Ter) rs1555392609
NM_152594.2(SPRED1):c.70C>T (p.Arg24Ter) rs121434313
NM_152594.2(SPRED1):c.796_797delAT (p.Met266Valfs) rs864622410
NM_152594.2(SPRED1):c.923_924delCT (p.Ser308Cysfs) rs1555392759

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