ClinVar Miner

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

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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_002834.5(PTPN11):c.1600-95C>T rs3741983 0.37076
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_002834.5(PTPN11):c.14+54C>A rs7973432 0.04259
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_133459.4(CCBE1):c.988-10A>G rs115490148 0.02376
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) rs80008675 0.01868
NM_133459.4(CCBE1):c.837C>T (p.Pro279=) rs61745250 0.01198
NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln) rs41278571 0.01086
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_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_005429.5(VEGFC):c.140A>T (p.Glu47Val) rs55728985 0.00720
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
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_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_133459.4(CCBE1):c.265+8A>C rs181010692 0.00052
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_133459.4(CCBE1):c.966G>A (p.Ala322=) rs144169027 0.00024
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) rs191592668 0.00013
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_002834.5(PTPN11):c.1599+33A>G rs727505380 0.00008
NM_002834.5(PTPN11):c.137+35G>A rs727505387 0.00006
NM_005429.5(VEGFC):c.364A>G (p.Ile122Val) rs202135883 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
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_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_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)

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.