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: 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: rs199472910
rs199472910
KCNH2
0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.700 1.000 5 2003 2017
dbSNP: rs199472910
rs199472910
KCNH2
0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.700 1.000 4 2009 2017
dbSNP: rs199473428
rs199473428
KCNH2
0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.700 1.000 5 1999 2015
dbSNP: rs199473428
rs199473428
KCNH2
0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		0.700 1.000 4 1999 2012
dbSNP: rs199473428
rs199473428
KCNH2
0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 1.000 4 1995 2012
dbSNP: rs28928905
rs28928905
KCNH2
0.851 0.120 7 150952514 missense variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 1.000 4 2001 2013
dbSNP: rs199473428
rs199473428
KCNH2
0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 3 2000 2019
dbSNP: rs104894021
rs104894021
KCNH2
0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		0.800 1.000 0 2004 2005
dbSNP: rs121912504
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval 		0.700 0