ClinVar Miner

Variants from Stanford Center for Inherited Cardiovascular Disease,Stanford University

Location: United States — Primary collection method: provider interpretation
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 total
120 186 706 21 15 1048

Gene and significance breakdown #

Total genes and gene combinations: 143
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYBPC3 13 37 58 7 1 116
MYH7 17 27 56 2 0 102
KCNQ1 19 18 10 0 0 47
TTN 0 16 26 0 0 42
RYR2 0 4 33 1 1 39
DSP 1 5 30 1 1 38
SCN5A 2 4 27 1 2 36
KCNH2 6 6 14 1 2 29
LDLR 18 8 1 0 0 27
TNNT2 7 9 10 0 0 26
ANK2 0 0 19 1 0 20
LMNA 5 7 7 0 0 19
PKP2 6 3 8 0 1 18
RBM20 1 1 16 0 0 18
ACTN2 0 0 17 0 0 17
PRKAG2 1 0 15 0 0 16
TPM1 1 3 12 0 0 16
TNNI3 2 7 4 1 0 14
AKAP9 0 0 12 1 0 13
DMD 2 0 10 1 0 13
BAG3 0 3 8 0 0 11
DSC2 0 0 11 0 0 11
LAMA4 0 0 10 0 0 10
ALMS1 0 0 9 0 0 9
CACNA1C 1 1 7 0 0 9
DSG2 0 1 7 1 0 9
LDB3 0 0 9 0 0 9
MHRT, MYH7 0 3 6 0 0 9
MYPN 0 0 8 0 1 9
TTR 2 3 3 0 0 8
VCL 0 0 8 0 0 8
JPH2 0 0 7 0 0 7
MYH6 0 0 7 0 0 7
NKX2-5 1 2 4 0 0 7
ABCC9 0 0 6 0 0 6
ELAC2 0 0 6 0 0 6
FLNC 0 0 6 0 0 6
GAA 0 0 5 0 1 6
GLA, RPL36A-HNRNPH2 1 1 4 0 0 6
LAMP2 1 1 3 0 1 6
MYL3 0 1 5 0 0 6
NEBL 0 0 5 1 0 6
NEXN 0 0 6 0 0 6
ACTC1, LOC101928174 0 1 4 0 0 5
HCN4 0 0 5 0 0 5
JUP 0 0 5 0 0 5
MT-TI 0 0 5 0 0 5
MYL2 0 2 3 0 0 5
MYOM1 0 0 5 0 0 5
SCN10A 0 0 4 1 0 5
TNNC1 0 0 5 0 0 5
ANKRD1 0 0 4 0 0 4
APOB 1 1 2 0 0 4
CSRP3 0 0 4 0 0 4
DES 0 0 4 0 0 4
FKRP 0 0 4 0 0 4
KCNE1 0 1 3 0 0 4
MT-ND1 0 0 4 0 0 4
PDLIM3 0 0 3 1 0 4
RAF1 0 0 4 0 0 4
TGFBR1 0 2 2 0 0 4
TMEM43 1 0 3 0 0 4
CASQ2 1 0 2 0 0 3
CAV3 0 0 3 0 0 3
CEP85L, PLN 2 0 1 0 0 3
EMD 1 0 2 0 0 3
LOC110121269, SCN5A 0 1 2 0 0 3
MYLK2 0 0 3 0 0 3
PCSK9 0 0 2 0 1 3
TMPO 0 0 2 0 1 3
TRDN 0 1 2 0 0 3
TRPM4 0 0 3 0 0 3
ACTA2 1 1 0 0 0 2
AGL 1 0 1 0 0 2
CTNNA3 0 0 2 0 0 2
DTNA 0 0 2 0 0 2
FKTN 0 0 2 0 0 2
KCNA5 0 0 2 0 0 2
KCNE2 0 0 2 0 0 2
KCNE3 0 0 2 0 0 2
KCNQ1, KCNQ1OT1 0 1 1 0 0 2
LOC110121288, SCN10A 0 0 2 0 0 2
MYH11, NDE1 0 0 2 0 0 2
MYOZ2 0 0 2 0 0 2
PRDM16 0 0 2 0 0 2
RYR1 1 0 1 0 0 2
SCN1B 0 1 1 0 0 2
SGCD 0 0 2 0 0 2
SLC22A5 0 0 2 0 0 2
SMAD3 2 0 0 0 0 2
SNTA1 0 0 2 0 0 2
TCAP 0 0 2 0 0 2
A2ML1 0 0 1 0 0 1
ACADVL 0 0 1 0 0 1
CACNB2 0 0 1 0 0 1
CACNB2, NSUN6 0 0 1 0 0 1
CALM2 0 0 1 0 0 1
CALM3 0 1 0 0 0 1
CAV3, SSUH2 0 0 1 0 0 1
CBL 0 0 1 0 0 1
CBS 0 0 1 0 0 1
COL3A1 0 1 0 0 0 1
CRYAB 0 0 1 0 0 1
DEPDC5 0 0 1 0 0 1
DNAAF3, TNNI3 0 0 0 0 1 1
DOLK 0 0 1 0 0 1
ENG 1 0 0 0 0 1
FLNA 0 0 1 0 0 1
GATA4 0 0 1 0 0 1
GPD1L 0 0 1 0 0 1
ILK 0 0 1 0 0 1
ILK, TAF10 0 0 1 0 0 1
JAG1 0 0 1 0 0 1
KCND3 0 0 1 0 0 1
KCNJ2 0 0 1 0 0 1
KCNJ5 0 0 1 0 0 1
KCNJ8 0 0 1 0 0 1
KCNK3 0 0 1 0 0 1
KCNT1 0 0 1 0 0 1
LAMA4, LOC101927640 0 0 1 0 0 1
LOC114827850, MYL2 0 0 1 0 0 1
LOC114827851, MYH6 0 0 1 0 0 1
MT-ND5 0 0 1 0 0 1
MT-ND6 0 1 0 0 0 1
MT-TG 0 0 1 0 0 1
MT-TK 0 0 1 0 0 1
MT-TL1 0 0 1 0 0 1
MT-TQ 0 0 1 0 0 1
MT-TS1 0 0 1 0 0 1
MTO1 0 0 1 0 0 1
MYL4 0 0 1 0 0 1
NOTCH1 0 0 1 0 0 1
PLOD1 0 0 1 0 0 1
PTPN11 0 0 1 0 0 1
SCN4B 0 0 0 0 1 1
SDHA 0 0 1 0 0 1
SERPINC1 0 0 1 0 0 1
SHOC2 0 0 1 0 0 1
SLC25A22 0 0 1 0 0 1
SYNE1 0 0 1 0 0 1
TAZ 1 0 0 0 0 1
TGFB2 0 0 1 0 0 1
TGFB3 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 3
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 120 186 393 21 4 724
not specified 0 0 318 0 11 329
Long QT syndrome 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.