ClinVar Miner

List of variants reported as benign for hypertensive disorder

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_002246.3(KCNK3):c.*13G>A rs1663002 0.96678
NM_001753.5(CAV1):c.30+214A>C rs1997623 0.86226
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_017827.4(SARS2):c.-12T>C rs730078 0.73727
NM_017827.4(SARS2):c.1160+4T>C rs7508411 0.73282
NM_017827.4(SARS2):c.963-40G>C rs4803034 0.72763
NC_000001.11:g.230710048A>G rs699 0.57702
NM_001204.7(BMPR2):c.*5787T>G rs1048829 0.49430
NM_017827.4(SARS2):c.*79G>C rs9403 0.46106
NM_001204.7(BMPR2):c.*806C>T rs6435156 0.32263
NM_017827.4(SARS2):c.268-27T>A rs4803046 0.20730
NM_017827.4(SARS2):c.268-26C>A rs4803045 0.20722
NM_017827.4(SARS2):c.1413+39C>T rs11670675 0.17484
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) rs10509305 0.17379
NM_017827.4(SARS2):c.321G>A (p.Glu107=) rs11544093 0.14659
NM_001204.7(BMPR2):c.*1999T>G rs17199249 0.12723
NM_001204.7(BMPR2):c.*1466T>G rs17199242 0.12016
NM_001204.7(BMPR2):c.*3907G>C rs6705406 0.11040
NM_001204.7(BMPR2):c.*7135A>G rs3731696 0.09198
NM_001204.7(BMPR2):c.2811G>A (p.Arg937=) rs1061157 0.08705
NM_017827.4(SARS2):c.103A>G (p.Thr35Ala) rs34264048 0.06166
NM_001753.5(CAV1):c.156C>T (p.Val52=) rs10029 0.03703
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_001204.7(BMPR2):c.*1236C>A rs113305949 0.02049
NM_001204.7(BMPR2):c.600A>C (p.Leu200=) rs55722784 0.01458
NM_001204.7(BMPR2):c.*5031C>T rs140700152 0.01197
NM_001204.7(BMPR2):c.-301G>A rs116154690 0.00917
NM_001204.7(BMPR2):c.*1732T>C rs115467510 0.00910
NM_001127217.3(SMAD9):c.12C>T (p.Thr4=) rs78237438 0.00747
NM_001753.5(CAV1):c.30+14G>T rs35697540 0.00721
NM_001127217.3(SMAD9):c.743C>A (p.Thr248Lys) rs79733377 0.00693
NM_001204.7(BMPR2):c.*3350G>T rs143416345 0.00669
NM_001204.7(BMPR2):c.*221C>T rs16839190 0.00646
NM_001204.7(BMPR2):c.-927A>G rs530181389 0.00636
NM_001204.7(BMPR2):c.-669G>A rs115604088 0.00624
NM_001204.7(BMPR2):c.*2939A>G rs13382817 0.00611
NM_001204.7(BMPR2):c.*106C>T rs45502895 0.00544
NM_001204.7(BMPR2):c.-704C>G rs114110688 0.00532
NM_001204.7(BMPR2):c.-924A>G rs1231549120 0.00527
NM_001204.7(BMPR2):c.*7388C>T rs149345058 0.00462
NM_002246.3(KCNK3):c.654G>T (p.Pro218=) rs34292597 0.00407
NM_001204.7(BMPR2):c.2748T>C (p.Leu916=) rs16839188 0.00400
NM_001127217.3(SMAD9):c.756T>C (p.His252=) rs146836873 0.00368
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001204.7(BMPR2):c.*5243T>C rs187619865 0.00322
NM_001204.7(BMPR2):c.*2769T>A rs149030267 0.00283
NM_001204.7(BMPR2):c.86A>G (p.Asn29Ser) rs112862820 0.00241
NM_001204.7(BMPR2):c.*4903A>C rs114155347 0.00213
NM_001013703.4(EIF2AK4):c.2662G>C (p.Asp888His) rs17848491 0.00190
NM_001204.7(BMPR2):c.*5044A>G rs563710461 0.00161
NM_001204.7(BMPR2):c.*2173A>G rs181609907 0.00134
NM_001204.7(BMPR2):c.*6879A>G rs138750669 0.00133
NM_001127217.3(SMAD9):c.1004-8G>A rs146507864 0.00131
NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro) rs111748421 0.00121
NM_001204.7(BMPR2):c.*2901A>C rs190829513 0.00121
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_001204.7(BMPR2):c.*1306A>C rs189652117 0.00089
NM_001753.5(CAV1):c.348C>T (p.Gly116=) rs141642234 0.00081
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=) rs150237947 0.00067
NM_001204.7(BMPR2):c.*7776C>T rs569350678 0.00064
NM_001127217.3(SMAD9):c.828C>T (p.Val276=) rs142675092 0.00063
NM_001204.7(BMPR2):c.*5127C>T rs548771446 0.00062
NM_001753.5(CAV1):c.246C>T (p.Asp82=) rs35242077 0.00045
NM_001204.7(BMPR2):c.*6108G>T rs192721303 0.00041
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152 0.00031
NM_001204.7(BMPR2):c.549T>C (p.Leu183=) rs142769493 0.00027
NM_001204.7(BMPR2):c.*378T>G rs184723247 0.00026
NM_001204.7(BMPR2):c.674G>A (p.Arg225His) rs148682262 0.00026
NM_001204.7(BMPR2):c.1766A>G (p.Tyr589Cys) rs199915496 0.00024
NM_001204.7(BMPR2):c.*3061A>G rs538597276 0.00020
NM_001204.7(BMPR2):c.*4584T>A rs542632689 0.00020
NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile) rs201067849 0.00020
NM_001204.7(BMPR2):c.621+8T>C rs117575598 0.00020
NM_001114753.3(ENG):c.1686+6T>G rs369766351 0.00019
NM_001127217.3(SMAD9):c.348A>G (p.Pro116=) rs182137303 0.00019
NM_001127217.3(SMAD9):c.48C>T (p.Pro16=) rs151312678 0.00019
NM_001204.7(BMPR2):c.-93A>G rs147936167 0.00019
NM_001127217.3(SMAD9):c.1260+17A>C rs374987262 0.00018
NM_002246.3(KCNK3):c.953G>A (p.Arg318His) rs150626749 0.00018
NM_001204.7(BMPR2):c.248-3T>C rs368090069 0.00014
NM_001204.7(BMPR2):c.2887G>T (p.Gly963Cys) rs146027217 0.00014
NM_001753.5(CAV1):c.129C>T (p.Asp43=) rs201261029 0.00014
NM_001204.7(BMPR2):c.*6354C>A rs142864631 0.00012
NM_001127217.3(SMAD9):c.327G>A (p.Pro109=) rs150209766 0.00010
NM_001204.7(BMPR2):c.981T>C (p.Pro327=) rs149225691 0.00010
NM_001204.7(BMPR2):c.*995G>A rs541375337 0.00007
NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln) rs201781338 0.00007
NM_001204.7(BMPR2):c.*130G>C rs192184184 0.00006
NM_001204.7(BMPR2):c.1414-3C>T rs199623676 0.00006
NM_001204.7(BMPR2):c.*6695C>T rs536814629 0.00004
NM_001204.7(BMPR2):c.81G>A (p.Ser27=) rs147207234 0.00004
NM_016204.4(GDF2):c.750C>A (p.Asn250Lys) rs782092613 0.00004
NM_002246.3(KCNK3):c.414C>T (p.Tyr138=) rs747071763 0.00003
NM_001204.7(BMPR2):c.*1971C>T rs573926101 0.00002
NM_001204.7(BMPR2):c.*7496T>C rs144181329 0.00002
NM_001204.7(BMPR2):c.9C>A (p.Ser3=) rs549281044 0.00002
NM_001204.7(BMPR2):c.*1226C>A rs149892154 0.00001
NM_002246.3(KCNK3):c.1053C>T (p.Gly351=) rs543371252 0.00001
NM_001127217.3(SMAD9):c.*3562CA[5] rs201352307
NM_001127217.3(SMAD9):c.1020C>T (p.Tyr340=)
NM_001204.7(BMPR2):c.*2901dup rs547796478
NM_001204.7(BMPR2):c.*3823_*3825del rs146406897
NM_001204.7(BMPR2):c.*4905C>A rs536174992
NM_001204.7(BMPR2):c.*5998G>A rs7600694
NM_001204.7(BMPR2):c.*7306A>G rs546032510
NM_001204.7(BMPR2):c.419-38del rs10714063
NM_001753.5(CAV1):c.30+13G>C
NM_001753.5(CAV1):c.30+13G>T
NM_001753.5(CAV1):c.30+16G>A rs148066554
NM_001753.5(CAV1):c.30+19del
NM_001753.5(CAV1):c.30+19dup rs749316760
NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser) rs202083721
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_002246.3(KCNK3):c.24G>C (p.Thr8=)
NM_007027.4(TOPBP1):c.672G>T (p.Lys224Asn)
NM_017827.4(SARS2):c.393+112dup rs59946162

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