ClinVar Miner

List of variants reported by Neurogenetics Research; Murdoch Childrens Research Institute

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005215.4(DCC):c.2260G>A (p.Val754Met) rs775565634 0.00008
NC_000001.11:g.231487317_231487320del rs527236214
NC_000004.11:g.39350045_39350099delinsAAGGG[(400_2000)]
NC_000004.12:g.39348425_39348479delinsAAAGG[400_2000]
NC_000023.11:g.(155246216_?)_(?_155288781)del
NM_001017995.3(SH3PXD2B):c.401+1G>A rs367543284
NM_001448.3(GPC4):c.1486G>T (p.Glu496Ter) rs1556022644
NM_001448.3(GPC4):c.1516C>T (p.Gln506Ter) rs1556022641
NM_001448.3(GPC4):c.1518_1521dup (p.Pro508fs) rs1569339879
NM_001448.3(GPC4):c.316del (p.Asp106fs) rs1556028269
NM_001448.3(GPC4):c.701dup (p.Val235fs) rs1556025980
NM_001448.3(GPC4):c.742del (p.Leu248fs) rs1569341521
NM_005215.3:c.[3649A>G;3748G>A]
NM_005215.4(DCC):c.1790G>C (p.Arg597Pro) rs1057519056
NM_005215.4(DCC):c.2227A>T (p.Met743Leu) rs199651452
NM_005215.4(DCC):c.2378T>G (p.Val793Gly) rs1057519054
NM_005215.4(DCC):c.2414G>A (p.Gly805Glu) rs1057519055
NM_005215.4(DCC):c.2677G>A (p.Ala893Thr) rs1057519057
NM_005215.4(DCC):c.823C>T (p.Arg275Ter) rs754914260
NM_005215.4(DCC):c.925del (p.Thr309fs) rs1057519053
NM_032018.7(SPRTN):c.718_718+3del rs587593493
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys) rs587777874
NM_175929.3(FGF14):c.208+239747CTT[349]

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