ClinVar Miner

Variants studied for Long QT syndrome

Coded as:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
793 287 6718 5208 649 1 5 13474

Gene and significance breakdown #

Total genes and gene combinations: 185
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
CACNA1C 15 4 1096 1562 250 0 0 2922
KCNH2 389 94 1368 940 53 0 2 2785
AKAP9 0 3 1385 724 85 0 0 2192
ANK2 14 8 1076 762 102 0 1 1959
KCNQ1 310 144 595 552 48 0 2 1559
SNTA1 0 1 198 133 18 0 0 348
KCNJ5 2 1 161 97 19 0 0 279
ANK2, LOC126807136 0 1 154 77 6 0 0 236
ANK2, LOC126807137 0 0 153 61 18 0 0 232
KCNE1 16 9 103 54 8 0 0 182
CAV3, OXTR 8 2 96 59 9 0 0 171
KCNQ1, KCNQ1OT1 11 3 43 32 7 0 0 95
CAV3 10 2 31 15 2 0 0 60
LOC130065680, SNTA1 0 0 25 14 0 0 0 39
SCN5A 7 4 22 4 3 0 0 38
AKAP9, LOC121175350 0 0 23 11 0 0 0 34
RYR2 1 1 17 0 0 0 0 19
AKAP9, LOC129998788 0 0 11 6 0 0 0 17
AKAP9, LOC129998789 0 0 7 8 1 0 0 16
LOC130065679, SNTA1 0 0 9 6 0 0 0 15
TTN 0 0 5 1 4 0 0 10
LOC130065678, SNTA1 0 0 5 4 0 0 0 9
KCNE2, LOC105372791 0 0 6 1 1 0 0 7
MYBPC3 0 1 4 1 1 0 0 7
MYH6 0 1 6 0 0 0 0 7
TRPM4 0 0 6 1 0 0 0 7
DSP 0 0 6 0 0 0 0 6
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GBX1, KCNH2, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86 3 0 1 0 0 0 0 4
CACNA1S 0 1 3 0 0 0 0 4
DSG2 0 1 2 1 0 0 0 4
KCNJ2 0 0 4 0 0 0 0 4
RBM20 0 0 3 0 1 0 0 4
RYR1 0 0 4 0 0 0 0 4
UBR4 0 0 4 0 0 0 0 4
BAG3 0 0 2 1 0 0 0 3
CACNB2 0 0 2 0 1 0 0 3
CTNNA3 0 1 2 0 0 0 0 3
DSC2 0 0 3 0 0 0 0 3
KCNE1, KCNE2, SMIM11 0 0 3 0 0 0 0 3
LDB3 0 0 3 0 0 0 0 3
MYH7 0 0 3 0 0 0 0 3
PKP2 0 0 2 1 0 0 0 3
SCN1B 0 1 1 1 0 0 0 3
TGFB3 0 0 2 0 1 0 0 3
TMPO 0 0 2 0 1 0 0 3
AOC1, GIMAP1, GIMAP2, GIMAP5, GIMAP6, KCNH2, NOS3, TMEM176A, TMEM176B 1 0 1 0 0 0 0 2
CACNA1C, CACNA2D4, DCP1B 0 0 2 0 0 0 0 2
CACNA2D1 0 0 2 0 0 0 0 2
CALM2 1 0 1 0 0 0 0 2
CASQ2 0 1 1 0 0 0 0 2
CIT 0 0 2 0 0 0 0 2
DIP2A 0 0 1 1 0 0 0 2
GH-LCR, SCN4A 0 0 2 0 0 0 0 2
GPD1L 0 0 2 0 0 0 0 2
HCN4 0 0 1 0 1 0 0 2
JUP 0 0 2 0 0 0 0 2
KCNE3 0 0 2 0 0 0 0 2
KCNH2, LOC110121275, LOC129999610, LOC129999611, LOC129999612 1 0 1 0 0 0 0 2
KIF21B 0 0 2 0 0 0 0 2
LOC110121269, SCN5A 0 0 2 0 0 0 0 2
NEXN 0 0 1 1 0 0 0 2
NOS1AP 0 0 2 0 0 0 0 2
PI4KA 0 0 2 0 0 0 0 2
SLMAP 0 0 2 0 0 0 0 2
UBR5 0 0 2 0 0 0 0 2
VCL 0 0 2 0 0 0 0 2
WDR26 0 0 2 0 0 0 0 2
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GALNT11, GALNTL5, GBX1, KCNH2, KMT2C, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86, XRCC2 0 0 1 0 0 0 0 1
ABCB8, AOC1, ASIC3, ATG9B, CDK5, GIMAP1, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, KCNH2, NOS3, REPIN1, SLC4A2, TMEM176A, TMEM176B, ZNF775 1 0 0 0 0 0 0 1
ABCF1 0 0 0 1 0 0 0 1
ACSS2, ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EDEM2, EIF2S2, GGT7, GSS, ITCH, MAP1LC3A, MIR499A, MYH7B, NCOA6, NECAB3, PIGU, PROCR, PXMP4, RALY, SNTA1, TP53INP2, TRPC4AP, ZNF341 0 0 1 0 0 0 0 1
ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EIF2S2, ITCH, MAP1LC3A, NCOA6, NECAB3, PIGU, PXMP4, RALY, SNTA1, TP53INP2, ZNF341 0 0 1 0 0 0 0 1
ACTN2 0 0 0 1 0 0 0 1
AKAP8 0 0 0 1 0 0 0 1
AKAP9, ANKIB1, CYP51A1, GATAD1, KRIT1, LOC113748416, LOC121175350, LOC126860104, LOC129389824, LOC129389825, LOC129389826, LOC129998788, LOC129998789, LOC129998790, LOC129998791, LOC129998792, LOC129998793, LOC129998794, LRRD1, MIR1285-1 0 0 1 0 0 0 0 1
AKAP9, CYP51A1 0 0 0 0 1 0 0 1
ANKRD1 0 0 0 0 1 0 0 1
ANKRD31 0 0 0 1 0 0 0 1
ARHGAP22 0 0 0 1 0 0 0 1
ARL13B 0 0 0 1 0 0 0 1
ARPC4, ARPC4-TTLL3, BRPF1, CAMK1, CAV3, CIDEC, CPNE9, CRELD1, IL17RC, IL17RE, JAGN1, LHFPL4, MTMR14, OGG1, OXTR, RAD18, RPUSD3, SETD5, SRGAP3, TADA3, THUMPD3, TTLL3 0 0 1 0 0 0 0 1
ARVCF 0 0 0 1 0 0 0 1
ASCL2, C11orf21, CD81, KCNQ1, TRPM5, TSPAN32, TSSC4 0 0 1 0 0 0 0 1
ASIC4, SPEG 0 0 1 0 0 0 0 1
ATL3, LNCROPM 0 0 0 1 0 0 0 1
BAIAP3 0 0 0 1 0 0 0 1
CACNA1C, CACNA1C-IT3 0 0 0 0 1 0 0 1
CACNA1C, CACNA1C-IT3, LOC124625881, LOC126861417, LOC126861418, LOC130007179, LOC130007180 0 0 1 0 0 0 0 1
CACNA1C, LOC126861418 0 0 0 0 1 0 0 1
CACNA1D 0 0 1 0 0 0 0 1
CALM1, LOC126862021 0 1 0 0 0 0 0 1
CAV3, LHFPL4, MTMR14, OXTR, RAD18, SETD5, SRGAP3, THUMPD3 0 0 1 0 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 0 0 1
CCN3 0 0 0 1 0 0 0 1
CD276 0 0 0 1 0 0 0 1
CELSR1 0 0 0 1 0 0 0 1
CTRL 0 0 0 1 0 0 0 1
DMD 0 0 0 0 1 0 0 1
DNA2 0 0 0 1 0 0 0 1
DPP6 0 0 1 0 0 0 0 1
ELMOD2 0 0 0 1 0 0 0 1
ERAP1 0 0 0 1 0 0 0 1
FGF2, LOC109113863 0 0 0 1 0 0 0 1
FSIP2 0 0 0 1 0 0 0 1
GAA 0 0 0 1 0 0 0 1
GNAI2 0 0 1 0 0 0 0 1
GPATCH2 0 0 0 1 0 0 0 1
GUF1 0 0 0 1 0 0 0 1
HK3 0 0 0 1 0 0 0 1
HKDC1 0 0 0 1 0 0 0 1
HNRNPM 0 0 0 1 0 0 0 1
ILK, TAF10 0 0 1 0 0 0 0 1
INTS8 0 0 0 1 0 0 0 1
JPH2 0 0 0 0 1 0 0 1
KCNH2, LOC129999612 1 0 0 0 0 0 0 1
KCNJ8 0 0 1 0 0 0 0 1
KIF11 0 0 0 1 0 0 0 1
KLRG1, PZP 0 0 0 1 0 0 0 1
LMNA 0 0 0 0 1 0 0 1
LMNA, LOC126805877 1 0 0 0 0 0 0 1
LOC126806067, RYR2 0 0 1 0 0 0 0 1
LOC126806068, RYR2 0 0 1 0 0 0 0 1
LOC126806426, TTN 0 0 0 0 1 0 0 1
LOC126806430, TTN 0 0 0 1 0 0 0 1
LOC130004408, TCTN3 0 0 0 1 0 0 0 1
LRBA 0 0 0 1 0 0 0 1
LRRC8E 0 0 0 1 0 0 0 1
LRTM3 0 0 0 1 0 0 0 1
MDN1 0 0 0 1 0 0 0 1
MKI67 0 0 0 1 0 0 0 1
MYBPHL 0 0 0 1 0 0 0 1
MYL3 0 0 1 0 0 0 0 1
MYLK4 0 0 0 1 0 0 0 1
MYPN 0 0 0 1 0 0 0 1
NET1 0 0 0 1 0 0 0 1
NKX2-5 0 0 1 0 0 0 0 1
NLRP13 0 0 0 1 0 0 0 1
NLRX1 0 0 0 1 0 0 0 1
NR5A2 0 0 0 1 0 0 0 1
NRIP1 0 0 0 1 0 0 0 1
PIK3CG 0 0 1 0 0 0 0 1
PKD1L2 0 0 0 1 0 0 0 1
PLCB4 0 0 0 1 0 0 0 1
POLRMT 0 0 0 1 0 0 0 1
PROKR1 0 0 0 1 0 0 0 1
PRSS12 0 0 0 1 0 0 0 1
PRSS57 0 0 0 1 0 0 0 1
PTOV1 0 0 0 1 0 0 0 1
RAD51C 0 1 0 0 0 0 0 1
RALGAPA1 0 0 0 1 0 0 0 1
REM1 0 0 0 1 0 0 0 1
RIMS1 0 0 1 0 0 0 0 1
RNF207 0 1 0 0 0 0 0 1
RTEL1-TNFRSF6B, TNFRSF6B 0 0 0 1 0 0 0 1
SCN3B 0 0 1 0 0 0 0 1
SDC1 0 0 0 1 0 0 0 1
SHANK3 0 0 0 1 0 0 0 1
SIDT1 0 0 0 1 0 0 0 1
SIRT6 0 0 1 0 0 0 0 1
SLC2A5 0 0 0 0 0 1 0 1
SLC6A17 0 0 0 1 0 0 0 1
SNAPC4 0 0 0 1 0 0 0 1
SNAPC5 0 0 0 1 0 0 0 1
SND1 0 0 0 1 0 0 0 1
STK32B 0 0 0 1 0 0 0 1
SYK 0 0 0 1 0 0 0 1
TCAP 0 0 0 0 1 0 0 1
TDRD6 0 0 0 1 0 0 0 1
TGFBRAP1 0 0 0 1 0 0 0 1
TLNRD1 0 0 0 1 0 0 0 1
TMEM43 0 0 1 0 0 0 0 1
TNNI3 0 0 1 0 0 0 0 1
TOP2A 0 0 0 1 0 0 0 1
TRHDE 0 0 0 1 0 0 0 1
TRMU 0 0 0 1 0 0 0 1
UBR7 0 0 0 1 0 0 0 1
UPP1 0 0 0 1 0 0 0 1
USP19 0 0 0 1 0 0 0 1
VSX1 0 0 0 1 0 0 0 1
WDR25 0 0 0 1 0 0 0 1
WWC2 0 0 0 1 0 0 0 1
YME1L1 0 0 0 1 0 0 0 1
ZNF174 0 0 0 1 0 0 0 1
ZNF341 0 0 0 1 0 0 0 1
ZNF862 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 772 198 6207 5023 620 0 0 12820
All of Us Research Program, National Institutes of Health 57 36 635 419 36 0 0 1183
Dept of Medical Biology, Uskudar University 14 14 107 7 7 0 0 149
Medical Research Institute, Tokyo Medical and Dental University 0 17 28 74 0 1 0 120
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 51 15 0 0 2 0 0 68
CSER _CC_NCGL, University of Washington 1 1 47 9 0 0 0 58
Blueprint Genetics 1 3 41 3 0 0 0 48
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 8 6 14 1 1 0 0 30
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 2 0 7 9 10 0 0 28
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 10 10 4 0 0 24
Cohesion Phenomics 0 0 0 4 6 0 0 10
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 3 1 4 1 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 4 3 0 0 0 0 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 4 0 0 0 0 0 7
Lildballe Lab, Aarhus University Hospital 0 2 4 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 5 0 1 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 0 5
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 0 3 0 0 0 0 5
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 4 0 0 0 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 1 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences 0 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 0 0 0 0 0 1
Translational Genomics Laboratory, University of Maryland School of Medicine 0 1 0 0 0 0 0 1

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