ClinVar Miner

Variants from Laboratory of Genetics and Molecular Cardiology,University of São Paulo

Location: Brazil — Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 total
87 122 137 7 22 375

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LDLR 79 41 72 3 6 201
APOB 5 3 40 3 8 59
MYH7 0 34 0 0 0 34
MYBPC3 0 29 1 1 0 31
PCSK9 1 0 11 0 5 17
APOB, LOC106560211 2 0 1 0 1 4
MHRT, MYH7 0 4 0 0 0 4
LDLR, MIR6886 0 0 1 0 2 3
TNNT2 0 3 0 0 0 3
ACTC1, LOC101928174 0 2 0 0 0 2
CSRP3 0 1 1 0 0 2
SCN5A 0 0 2 0 0 2
ACTN2 0 0 1 0 0 1
FLNC 0 0 1 0 0 1
MYH6 0 0 1 0 0 1
MYL2 0 1 0 0 0 1
MYL3 0 0 1 0 0 1
MYLK2 0 0 1 0 0 1
RBM20 0 0 1 0 0 1
SYNE1 0 0 1 0 0 1
TCAP 0 1 0 0 0 1
TMEM43 0 1 0 0 0 1
TNNI3 0 0 1 0 0 1
TPM1 0 1 0 0 0 1
VCL 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hypercholesterolemia 87 44 125 6 22 284
Familial hypertrophic cardiomyopathy 1 0 38 1 0 0 39
Familial hypertrophic cardiomyopathy 4 0 29 1 0 0 30
Cardiomyopathy 0 1 5 0 0 6
Familial hypertrophic cardiomyopathy 2 0 3 0 0 0 3
Familial hypertrophic cardiomyopathy 11 0 2 0 0 0 2
Familial hypertrophic cardiomyopathy 12 0 1 1 0 0 2
Dilated cardiomyopathy 1AA 0 0 1 0 0 1
Dilated cardiomyopathy 1N 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 10 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 14 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 15 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 3 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 7 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 8 0 0 1 0 0 1
not specified 0 0 0 1 0 1

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