ClinVar Miner

List of variants in gene SPRED1 reported as likely pathogenic for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.33-1G>A rs1895105626 0.00001
NC_000015.9:g.(?_38631928)_(38643865_?)del
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs) rs2141016462
NM_152594.3(SPRED1):c.1062del (p.Asp354fs) rs2141016500
NM_152594.3(SPRED1):c.1196dup (p.Phe400fs) rs1555392791
NM_152594.3(SPRED1):c.1248T>A (p.Cys416Ter) rs2141016711
NM_152594.3(SPRED1):c.163del (p.Cys55fs) rs2140978513
NM_152594.3(SPRED1):c.1A>G (p.Met1Val) rs1894017295
NM_152594.3(SPRED1):c.1_2del (p.Met1fs) rs1555386649
NM_152594.3(SPRED1):c.207+1G>A rs1595733611
NM_152594.3(SPRED1):c.207+1G>T rs1595733611
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.376+1G>A rs1184012360
NM_152594.3(SPRED1):c.376+1G>T
NM_152594.3(SPRED1):c.423+1del
NM_152594.3(SPRED1):c.424-2A>T
NM_152594.3(SPRED1):c.472C>T (p.Gln158Ter)
NM_152594.3(SPRED1):c.521_522dup (p.Pro175fs)
NM_152594.3(SPRED1):c.582+1G>T
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)
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs) rs1555392750
NM_152594.3(SPRED1):c.916A>T (p.Lys306Ter) rs1300035418
NM_152594.3(SPRED1):c.926_927del (p.Val309fs) rs2141016305
NM_152594.3(SPRED1):c.932_933del (p.Val310_Phe311insTer)
NM_152594.3(SPRED1):c.958dup (p.Ile320fs)

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