ClinVar Miner

List of variants studied for hypertensive disorder by John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) rs17215409 0.00241
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_001013703.4(EIF2AK4):c.2662G>C (p.Asp888His) rs17848491 0.00190
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) rs35031555 0.00041
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_001114753.3(ENG):c.1686+6T>G rs369766351 0.00019
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_002234.4(KCNA5):c.1730G>A (p.Arg577Gln) rs139805781 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_016204.4(GDF2):c.750C>A (p.Asn250Lys) rs782092613 0.00004
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) rs1555208696 0.00003
NM_000435.3(NOTCH3):c.4816A>G (p.Ser1606Gly)
NM_001013703.4(EIF2AK4):c.1243del (p.Tyr415fs)
NM_001013703.4(EIF2AK4):c.301G>T (p.Glu101Ter)
NM_001204.7(BMPR2):c.1169del (p.Gly390fs)
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.1644del (p.Ser549fs)
NM_001204.7(BMPR2):c.186dup (p.Gly63fs) rs863223423
NM_001204.7(BMPR2):c.189dup (p.Ser64Ter)
NM_001204.7(BMPR2):c.2530C>T (p.Gln844Ter)
NM_001204.7(BMPR2):c.978del (p.Lys326fs)
NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser) rs202083721
NM_002234.4(KCNA5):c.859_860delinsTT (p.Ala287Leu) rs1565465582
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_002246.3(KCNK3):c.571_573delinsCAA (p.Tyr191Gln)
NM_007027.4(TOPBP1):c.672G>T (p.Lys224Asn)
NM_016204.4(GDF2):c.554C>A (p.Ala185Asp)
NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys) rs760376139

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