ClinVar Miner

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

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 160
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HGVS dbSNP
NC_000015.9:g.(?_38545381)_(38643871_?)del
NC_000015.9:g.(?_38591574)_(38649450_?)del
NM_152594.3(SPRED1):c.*1040G>A rs115568221
NM_152594.3(SPRED1):c.*1337A>C rs570038934
NM_152594.3(SPRED1):c.*1400G>A rs886051109
NM_152594.3(SPRED1):c.*149G>A rs776485386
NM_152594.3(SPRED1):c.*1563C>T rs886051110
NM_152594.3(SPRED1):c.*1659_*1662del rs57589132
NM_152594.3(SPRED1):c.*1724A>C rs1554527
NM_152594.3(SPRED1):c.*1747A>C rs561525888
NM_152594.3(SPRED1):c.*1798A>C rs886051111
NM_152594.3(SPRED1):c.*1897C>T rs776375597
NM_152594.3(SPRED1):c.*2359G>C rs886051112
NM_152594.3(SPRED1):c.*2414del rs532033889
NM_152594.3(SPRED1):c.*248T>C rs16966842
NM_152594.3(SPRED1):c.*2506_*2513del rs770258605
NM_152594.3(SPRED1):c.*256C>T rs145373657
NM_152594.3(SPRED1):c.*2570T>C rs111997668
NM_152594.3(SPRED1):c.*2831G>A rs35490364
NM_152594.3(SPRED1):c.*2843A>C rs886051115
NM_152594.3(SPRED1):c.*2885G>A rs79309779
NM_152594.3(SPRED1):c.*3057A>G rs72725362
NM_152594.3(SPRED1):c.*3192G>A rs566065329
NM_152594.3(SPRED1):c.*3521A>G rs11634702
NM_152594.3(SPRED1):c.*3544G>A rs886051116
NM_152594.3(SPRED1):c.*3584G>A rs886051117
NM_152594.3(SPRED1):c.*3591C>T rs147489619
NM_152594.3(SPRED1):c.*3623G>T rs148525432
NM_152594.3(SPRED1):c.*3647T>G rs186366365
NM_152594.3(SPRED1):c.*3698T>G rs76527876
NM_152594.3(SPRED1):c.*3830G>A rs8039150
NM_152594.3(SPRED1):c.*3946G>A rs8039337
NM_152594.3(SPRED1):c.*3996G>A rs72725364
NM_152594.3(SPRED1):c.*4046G>A rs886051118
NM_152594.3(SPRED1):c.*4136_*4138ATT[1] rs369376164
NM_152594.3(SPRED1):c.*427A>T rs185290497
NM_152594.3(SPRED1):c.*4472C>A rs541556786
NM_152594.3(SPRED1):c.*4662T>A rs10852019
NM_152594.3(SPRED1):c.*4725A>G rs530058944
NM_152594.3(SPRED1):c.*4744G>T rs886051120
NM_152594.3(SPRED1):c.*4781C>A rs886051121
NM_152594.3(SPRED1):c.*4822A>G rs576136057
NM_152594.3(SPRED1):c.*4932A>G rs16966843
NM_152594.3(SPRED1):c.*4948_*4949AT[1] rs886051122
NM_152594.3(SPRED1):c.*4987A>C rs886051123
NM_152594.3(SPRED1):c.*5090dup rs141174183
NM_152594.3(SPRED1):c.*5110C>T rs8026118
NM_152594.3(SPRED1):c.*5202C>T rs541213700
NM_152594.3(SPRED1):c.*5232G>A rs886051124
NM_152594.3(SPRED1):c.*5346A>C rs886051125
NM_152594.3(SPRED1):c.*565A>C rs866578422
NM_152594.3(SPRED1):c.*578_*579AT[11] rs147547509
NM_152594.3(SPRED1):c.*578_*579AT[12] rs147547509
NM_152594.3(SPRED1):c.*578_*579AT[13] rs147547509
NM_152594.3(SPRED1):c.*578_*579AT[8] rs147547509
NM_152594.3(SPRED1):c.*810A>G rs886051108
NM_152594.3(SPRED1):c.-152C>A rs886051102
NM_152594.3(SPRED1):c.-156del rs531519324
NM_152594.3(SPRED1):c.-191C>T rs556907443
NM_152594.3(SPRED1):c.-201G>A rs770231868
NM_152594.3(SPRED1):c.-244T>C rs138385793
NM_152594.3(SPRED1):c.-294C>T rs886051100
NM_152594.3(SPRED1):c.-294_-293CT[2] rs1048605006
NM_152594.3(SPRED1):c.-309C>T rs578173447
NM_152594.3(SPRED1):c.-87C>T rs886051103
NM_152594.3(SPRED1):c.-93C>T rs192699510
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys) rs765603808
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile) rs373477920
NM_152594.3(SPRED1):c.1008A>G (p.Val336=) rs1555392775
NM_152594.3(SPRED1):c.1031A>G (p.His344Arg) rs376679136
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter) rs1555389690
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs) rs1566876929
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
NM_152594.3(SPRED1):c.1053del (p.Lys351fs) rs1566876954
NM_152594.3(SPRED1):c.1076T>A (p.Ile359Asn) rs763738243
NM_152594.3(SPRED1):c.1095_1098AGTT[1] (p.Ser367fs) rs1555392783
NM_152594.3(SPRED1):c.1149_1150AG[1] (p.Glu384fs) rs878855228
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
NM_152594.3(SPRED1):c.1151del (p.Glu384fs)
NM_152594.3(SPRED1):c.115C>G (p.Leu39Val) rs1555389691
NM_152594.3(SPRED1):c.1196dup (p.Phe400fs) rs1555392791
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe) rs779058019
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) rs1566877075
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His) rs369492789
NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala)
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val) rs200871227
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp) rs121434318
NM_152594.3(SPRED1):c.135C>G (p.Phe45Leu)
NM_152594.3(SPRED1):c.149A>T (p.Gln50Leu)
NM_152594.3(SPRED1):c.178A>G (p.Ile60Val) rs761830220
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys)
NM_152594.3(SPRED1):c.182G>A (p.Arg61His) rs750686148
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.1_2del (p.Met1fs) rs1555386649
NM_152594.3(SPRED1):c.207+1G>A
NM_152594.3(SPRED1):c.208-6T>C rs1241478218
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe) rs1412213561
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) rs1566867209
NM_152594.3(SPRED1):c.24del (p.Asp9fs) rs1555386654
NM_152594.3(SPRED1):c.274T>C (p.Trp92Arg) rs1566867214
NM_152594.3(SPRED1):c.287A>G (p.Asp96Gly) rs1555391039
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg) rs1555391042
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445
NM_152594.3(SPRED1):c.299G>A (p.Gly100Asp) rs1555391048
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs) rs1566867246
NM_152594.3(SPRED1):c.302T>C (p.Leu101Pro)
NM_152594.3(SPRED1):c.302T>G (p.Leu101Arg)
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs)
NM_152594.3(SPRED1):c.315T>G (p.Ser105Arg) rs1566867263
NM_152594.3(SPRED1):c.340_341AG[1] (p.Gly115fs) rs1555391061
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.376+9T>G rs1555391063
NM_152594.3(SPRED1):c.384dup (p.Glu129fs) rs1566868022
NM_152594.3(SPRED1):c.395A>G (p.Asn132Ser)
NM_152594.3(SPRED1):c.401C>G (p.Ala134Gly)
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln)
NM_152594.3(SPRED1):c.406G>A (p.Gly136Arg) rs1555391158
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter) rs1060502505
NM_152594.3(SPRED1):c.423+1G>A rs1566868058
NM_152594.3(SPRED1):c.423+2T>C rs1555391161
NM_152594.3(SPRED1):c.424-18G>A rs7179118
NM_152594.3(SPRED1):c.424-8= rs7180446
NM_152594.3(SPRED1):c.424-8C>A rs7180446
NM_152594.3(SPRED1):c.424-98= rs7163339
NM_152594.3(SPRED1):c.449C>T (p.Ser150Phe) rs1555392025
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val) rs1060502504
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.538G>T (p.Asp180Tyr) rs1375474473
NM_152594.3(SPRED1):c.564G>A (p.Met188Ile) rs202092705
NM_152594.3(SPRED1):c.565C>A (p.Gln189Lys) rs200142785
NM_152594.3(SPRED1):c.583-7A>G rs115970207
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter) rs121434316
NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter) rs121434314
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter) rs1555392609
NM_152594.3(SPRED1):c.683G>A (p.Arg228Lys) rs951963194
NM_152594.3(SPRED1):c.684+10G>A rs1555392611
NM_152594.3(SPRED1):c.685G>T (p.Val229Phe) rs201837340
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244
NM_152594.3(SPRED1):c.707A>G (p.His236Arg) rs886051104
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly) rs1057524159
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter) rs121434317
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs) rs1555386651
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter)
NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg) rs1427402192
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs) rs1555392750
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe) rs886051105
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter)
NM_152594.3(SPRED1):c.921_922CT[1] (p.Ser308fs) rs1555392759
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683
NM_152594.3(SPRED1):c.974G>A (p.Arg325Gln) rs1238094530
NM_152594.3(SPRED1):c.995G>A (p.Arg332His) rs779966392

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