Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554424772
rs1554424772
KCNH2
1.000 7 150948855 splice donor variant C/T snv
CUI: C3277700
Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 1/2, DIGENIC (disorder) 		0.700 0
dbSNP: rs794728426
rs794728426
KCNH2
7 150958163 frameshift variant CGCG/GCTTTT delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728428
rs794728428
KCNH2
7 150958116 frameshift variant TCGGCCG/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728434
rs794728434
KCNH2
7 150952777 frameshift variant -/CAGG delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728456
rs794728456
KCNH2
7 150947794 frameshift variant G/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728457
rs794728457
KCNH2
7 150947782 frameshift variant TCTCCCC/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728464
rs794728464
KCNH2
7 150947512 splice region variant -/CTGC delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728465
rs794728465
KCNH2
7 150947400 frameshift variant -/G delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728467
rs794728467
KCNH2
7 150947380 frameshift variant -/CCGCC;CGCC delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728472
rs794728472
KCNH2
7 150947344 frameshift variant G/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728476
rs794728476
KCNH2
7 150974765 inframe insertion -/ATCTGCGCG delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728489
rs794728489
KCNH2
7 150959670 frameshift variant -/CCAC ins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728497
rs794728497
KCNH2
7 150952840 frameshift variant C/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728499
rs794728499
KCNH2
7 150951578 frameshift variant G/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728500
rs794728500
KCNH2
7 150951013 frameshift variant G/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728506
rs794728506
KCNH2
7 150974918 frameshift variant C/- del
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728507
rs794728507
KCNH2
7 150974912 frameshift variant C/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs12720441
rs12720441
KCNH2
1.000 0.080 7 150950216 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 3 2002 2012
dbSNP: rs12720441
rs12720441
KCNH2
1.000 0.080 7 150950216 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C3888153
Disease: LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs199472948
rs199472948
KCNH2
1.000 0.080 7 150951531 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs199472944
rs199472944
KCNH2
0.882 0.120 7 150951552 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 30 1997 2015
dbSNP: rs199473538
rs199473538
KCNH2
0.882 0.120 7 150948981 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.700 1.000 15 2000 2016
dbSNP: rs199472921
rs199472921
KCNH2
0.882 0.120 7 150951712 missense variant C/G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1999 2016
dbSNP: rs199472921
rs199472921
KCNH2
0.882 0.120 7 150951712 missense variant C/G;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 1999 2016
dbSNP: rs199472957
rs199472957
KCNH2
0.882 0.120 7 150951507 missense variant T/A;C;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 14 1998 2016