ClinVar Miner

List of variants studied for hypertensive disorder by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_001384479.1(AGT):c.76C>T (p.Arg26Trp) rs761670478 0.00001
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_001127217.3(SMAD9):c.892A>G (p.Ile298Val)
NM_001204.7(BMPR2):c.256T>A (p.Ser86Thr)
NM_001204.7(BMPR2):c.667G>C (p.Asp223His)
NM_017827.4(SARS2):c.655C>T (p.Arg219Cys)

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