ClinVar Miner

List of variants reported as uncertain significance for hypertensive disorder by Rare Disease Genomics Group, St George's University of London

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.1766A>G (p.Tyr589Cys) rs199915496 0.00024
NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile) rs201067849 0.00020
NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln) rs201781338 0.00007
NM_001204.7(BMPR2):c.1516A>G (p.Met506Val) rs370457339 0.00004
NM_001204.7(BMPR2):c.818T>G (p.Met273Arg) rs1085307264 0.00002
NM_001204.7(BMPR2):c.2296A>G (p.Thr766Ala) rs758990535 0.00001
NM_001204.7(BMPR2):c.276A>C (p.Gln92His) rs140683387 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_001204.7(BMPR2):c.1066A>T (p.Met356Leu) rs1085307293
NM_001204.7(BMPR2):c.1117G>C (p.Ala373Pro) rs1085307299
NM_001204.7(BMPR2):c.1598A>G (p.His533Arg) rs1085307368
NM_001204.7(BMPR2):c.266G>C (p.Gly89Ala) rs1085307200
NM_001204.7(BMPR2):c.292G>A (p.Glu98Lys) rs1085307204
NM_001204.7(BMPR2):c.461C>G (p.Ala154Gly) rs373414709
NM_001204.7(BMPR2):c.901T>C (p.Ser301Pro) rs876657748
NM_001204.7(BMPR2):c.954A>C (p.Glu318Asp) rs1037042104
NM_005359.6(SMAD4):c.1448-6T>C rs1085307437
NM_005900.3(SMAD1):c.8T>C (p.Val3Ala) rs587777018

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