ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.33-1G>A rs1895105626 0.00001
NM_152594.3(SPRED1):c.582+1G>T rs1595756946 0.00001
NC_000015.9:g.(?_38631928)_(38643865_?)del
NM_152594.3(SPRED1):c.1062del (p.Asp354fs) rs2141016500
NM_152594.3(SPRED1):c.1138_1141del (p.Met380fs)
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs) rs878855228
NM_152594.3(SPRED1):c.1196dup (p.Phe400fs) rs1555392791
NM_152594.3(SPRED1):c.1A>G (p.Met1Val) rs1894017295
NM_152594.3(SPRED1):c.1A>T (p.Met1Leu)
NM_152594.3(SPRED1):c.1_2del (p.Met1fs) rs1555386649
NM_152594.3(SPRED1):c.207+1G>A rs1595733611
NM_152594.3(SPRED1):c.234del (p.Asp79fs)
NM_152594.3(SPRED1):c.24_25dup (p.Asp9fs) rs2140943428
NM_152594.3(SPRED1):c.24del (p.Asp9fs) rs1555386654
NM_152594.3(SPRED1):c.305C>A (p.Thr102Lys) rs754706111
NM_152594.3(SPRED1):c.32+2T>G rs2140943462
NM_152594.3(SPRED1):c.350_351dup (p.Arg118fs)
NM_152594.3(SPRED1):c.376+1G>A rs1184012360
NM_152594.3(SPRED1):c.376+1G>T rs1184012360
NM_152594.3(SPRED1):c.423+1del rs2542700396
NM_152594.3(SPRED1):c.424-2A>T rs2542723522
NM_152594.3(SPRED1):c.472C>T (p.Gln158Ter) rs2542723680
NM_152594.3(SPRED1):c.521_522dup (p.Pro175fs) rs2542723848
NM_152594.3(SPRED1):c.700dup (p.Ile234fs) rs2542742376
NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter) rs1566876690
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.867dup (p.Ser290fs) rs1424526290
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs) rs1555392750
NM_152594.3(SPRED1):c.932_933del (p.Val310_Phe311insTer) rs2542743104
NM_152594.3(SPRED1):c.958dup (p.Ile320fs) rs2542743206

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