ClinVar Miner

List of variants studied for RASopathy by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.2791+53C>T rs7577088 0.94549
NM_005633.4(SOS1):c.720+25C>G rs997344 0.92897
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250 0.42547
NM_002834.5(PTPN11):c.1600-95C>T rs3741983 0.37076
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_030662.4(MAP2K2):c.192C>T (p.Val64=) rs8157 0.06496
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_002834.5(PTPN11):c.14+54C>A rs7973432 0.04259
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_030662.4(MAP2K2):c.303+18G>A rs116988721 0.00894
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_002834.5(PTPN11):c.757-69T>C rs150087259 0.00468
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_005633.4(SOS1):c.3081+26G>A rs186106971 0.00284
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_030662.4(MAP2K2):c.581-8G>A rs369262004 0.00012
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn) rs771480941 0.00009
NM_002834.5(PTPN11):c.1599+33A>G rs727505380 0.00008
NM_030662.4(MAP2K2):c.258C>A (p.Val86=) rs148437150 0.00008
NM_002834.5(PTPN11):c.137+35G>A rs727505387 0.00006
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079 0.00006
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_005188.4(CBL):c.1920G>A (p.Thr640=) rs202158626 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_152594.3(SPRED1):c.306G>A (p.Thr102=) rs372791883 0.00003
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385 0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1599+26G>A rs727505390 0.00001
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132 0.00001
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379 0.00001
NM_005633.4(SOS1):c.3347-20T>G rs727505382 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_002834.3:c.1-140delG
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.15-38C>T rs727505378
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.933+25T>C rs727505386
NM_005633.3:c.213+15C>G
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.4(SOS1):c.2964+32T>G rs727505384
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006939.4(SOS2):c.1125T>C (p.Ile375=) rs1885009611
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.346-5C>T
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu) rs2041142587
NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)
NM_030662.4(MAP2K2):c.705+11G>C rs202086678
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
NM_030662.4(MAP2K2):c.985-19C>A rs987549297
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.