ClinVar Miner

List of variants in gene SPRED1 studied for Noonan syndrome and Noonan-related syndrome

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.*256C>T rs145373657 0.01162
NM_152594.3(SPRED1):c.-93C>T rs192699510 0.00724
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_152594.3(SPRED1):c.290A>G (p.Lys97Arg) rs556636985 0.00026
NM_152594.3(SPRED1):c.1226C>T (p.Ala409Val) rs751260227 0.00022
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772 0.00011
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_152594.3(SPRED1):c.685-8T>C rs760690837 0.00005
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile) rs769630742 0.00004
NM_152594.3(SPRED1):c.-2A>T rs773950720 0.00003
NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg) rs775334473 0.00003
NM_152594.3(SPRED1):c.306G>A (p.Thr102=) rs372791883 0.00003
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=) rs768937237 0.00002
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467 0.00002
NM_152594.3(SPRED1):c.1001G>A (p.Arg334His) rs146702985 0.00001
NM_152594.3(SPRED1):c.1044_1045del (p.Arg349fs) rs1366401484 0.00001
NM_152594.3(SPRED1):c.1046G>C (p.Arg349Thr) rs1221405249 0.00001
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053 0.00001
NM_152594.3(SPRED1):c.43G>A (p.Ala15Thr) rs753924528 0.00001
NM_152594.3(SPRED1):c.511T>C (p.Ser171Pro) rs376527959 0.00001
NM_152594.3(SPRED1):c.951A>T (p.Ser317=) rs899712805 0.00001
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs) rs2141016462
NM_152594.3(SPRED1):c.1225G>T (p.Ala409Ser) rs762735151
NM_152594.3(SPRED1):c.1248T>A (p.Cys416Ter) rs2141016711
NM_152594.3(SPRED1):c.163del (p.Cys55fs) rs2140978513
NM_152594.3(SPRED1):c.207+10A>G rs918390069
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter) rs727504170
NM_152594.3(SPRED1):c.250A>G (p.Lys84Glu) rs2140994791
NM_152594.3(SPRED1):c.317C>T (p.Pro106Leu) rs2140994900
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.823G>T (p.Asp275Tyr) rs780737673
NM_152594.3(SPRED1):c.82A>G (p.Ser28Gly) rs2140978422
NM_152594.3(SPRED1):c.916A>T (p.Lys306Ter) rs1300035418
NM_152594.3(SPRED1):c.926_927del (p.Val309fs) rs2141016305

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