ClinVar Miner

List of variants reported as pathogenic for hypertensive disorder by OMIM

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) rs10509305 0.17379
NM_001127217.3(SMAD9):c.127A>G (p.Lys43Glu) rs397514715 0.00003
NM_000961.4(PTGIS):c.1358+2T>C rs13306026 0.00001
NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter) rs397514716 0.00001
NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys) rs398123042 0.00001
NM_017827.4(SARS2):c.1205G>A (p.Arg402His) rs370842354 0.00001
NC_000002.12:g.(?_202376327_202567749_?)del
NG_009363.1:g.(161407_170984)_(171122_181389)del
NM_001127217.3(SMAD9):c.606C>A (p.Cys202Ter) rs121918359
NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) rs137852744
NM_001204.7(BMPR2):c.1101_1105del (p.Glu368fs) rs1085307297
NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly) rs137852745
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter) rs137852742
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2696G>C (p.Arg899Pro) rs137852752
NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) rs137852743
NM_001204.7(BMPR2):c.355del (p.Ser119fs) rs1085307219
NM_001204.7(BMPR2):c.367T>A (p.Cys123Ser) rs137852750
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg) rs137852750
NM_001204.7(BMPR2):c.44del (p.Pro15fs) rs483352902
NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter) rs137852747
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs) rs1085307253
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751
NM_001749.4(CAPNS1):c.210-2A>G
NM_001749.4(CAPNS1):c.721+1G>A
NM_001753.5(CAV1):c.473del (p.Pro158fs) rs879255566
NM_001753.5(CAV1):c.474del (p.Leu159fs) rs587777017
NM_002246.3(KCNK3):c.289G>A (p.Gly97Arg) rs398123040
NM_002246.3(KCNK3):c.575A>G (p.Tyr192Cys) rs398123043
NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp) rs398123039
NM_002246.3(KCNK3):c.661G>C (p.Val221Leu) rs398123041
NM_006587.4(CORIN):c.1414A>G (p.Ser472Gly) rs387906895
NM_006587.4(CORIN):c.949A>G (p.Lys317Glu) rs387906894
NM_017827.4(SARS2):c.1169A>G (p.Asp390Gly) rs727502784

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