ClinVar Miner

Variants from SNPedia

Location: United States — Primary collection method: not provided
Minimum submission review status: Collection method:
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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 not provided total
70 5 0 0 0 39 114

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic not provided total
PALB2 24 0 0 24
VPS13B 21 0 2 23
LDLR 0 5 8 13
ASL 11 0 0 11
CLN6 0 0 9 9
TUBB8 7 0 0 7
SETD1A 5 0 0 5
GNPTAB 0 0 3 3
AOPEP, FANCC 0 0 2 2
CFTR 0 0 2 2
GNPTG 0 0 2 2
APOE 0 0 1 1
BLM 0 0 1 1
CFTR, LOC111674475 0 0 1 1
ELP1 0 0 1 1
F9 0 0 1 1
FANCC 0 0 1 1
GBA, LOC106627981 1 0 0 1
HNF1A 0 0 1 1
LMNA 0 0 1 1
MCM8 0 0 1 1
MCOLN1 0 0 1 1
POLA1 1 0 0 1
WRN 0 0 1 1

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic not provided total
not provided 45 0 37 82
Argininosuccinate lyase deficiency 11 0 0 11
Oocyte maturation defect 2 7 0 0 7
Familial hypercholesterolemia 0 5 0 5
Schizophrenia 5 0 0 5
Diabetes mellitus type 2 0 0 1 1
Hereditary factor IX deficiency disease 0 0 1 1
Parkinson disease, late-onset 1 0 0 1
Pigmentary disorder, reticulate, with systemic manifestations, X-linked 1 0 0 1

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