ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome and Noonan-related syndrome by Invitae

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053 0.00001
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941 0.00001
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313 0.00001
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter) rs1172820756 0.00001
NC_000015.10:g.(?_38253166)_(39021201_?)del
NC_000015.10:g.(?_38253180)_(38351670_?)del
NC_000015.10:g.(?_38253186)_(38253227_?)del
NC_000015.10:g.(?_38299363)_(38324819_?)del
NC_000015.10:g.(?_38299373)_(38357249_?)del
NC_000015.9:g.(?_38545367)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38643865_?)del
NC_000015.9:g.(?_38591568)_(38643870_?)del
NC_000015.9:g.(?_38614422)_(38617030_?)del
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp) rs730880460
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) rs1554884966
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val) rs727503094
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) rs869025191
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.259G>C (p.Asp87His) rs886041414
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>C (p.Met267Thr) rs797045167
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter) rs2141016437
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter) rs1566876895
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs) rs1566876929
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs) rs2141016462
NM_152594.3(SPRED1):c.1053del (p.Lys351fs) rs1566876954
NM_152594.3(SPRED1):c.1073del (p.Pro358fs)
NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs)
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs) rs1555392783
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs) rs2141016553
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter)
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs) rs878855228
NM_152594.3(SPRED1):c.1151del (p.Glu384fs) rs1595763928
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter) rs1345810751
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter)
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
NM_152594.3(SPRED1):c.1224del (p.Ala409fs)
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs) rs2141016685
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs)
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs) rs2141016692
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter) rs148646547
NM_152594.3(SPRED1):c.177del (p.Phe59fs)
NM_152594.3(SPRED1):c.177dup (p.Ile60fs) rs1895110802
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter) rs727504170
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) rs1566867209
NM_152594.3(SPRED1):c.272del (p.His91fs)
NM_152594.3(SPRED1):c.291del (p.Lys98fs)
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs) rs1566867246
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.305del (p.Thr102fs) rs2140994872
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs) rs1595746834
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer) rs1595746858
NM_152594.3(SPRED1):c.328del (p.Arg110fs)
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs) rs1555391061
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs)
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.355dup (p.Ala119fs) rs1895621783
NM_152594.3(SPRED1):c.384dup (p.Glu129fs) rs1566868022
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter) rs764823722
NM_152594.3(SPRED1):c.395dup (p.Asn132fs) rs1895677481
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile) rs1324903101
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)
NM_152594.3(SPRED1):c.40del (p.Tyr14fs) rs2140978331
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter) rs1060502505
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)
NM_152594.3(SPRED1):c.461del (p.Asp154fs)
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter) rs2141014847
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter) rs368660900
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter) rs121434316
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter) rs1555392609
NM_152594.3(SPRED1):c.684+1G>T
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer) rs2141016007
NM_152594.3(SPRED1):c.696del (p.Lys232fs)
NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)
NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter)
NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter) rs1888473716
NM_152594.3(SPRED1):c.794dup (p.Asp265fs) rs2141016108
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter) rs1595763557
NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter) rs755557783
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter) rs1595763656
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs) rs1595763662
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs) rs1595763659
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs) rs1555392759
NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683

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