ClinVar Miner

Variants studied for Nephronophthisis-like nephropathy 1

Coded as:
Minimum submission review status: Collection method:
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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
8 5 137 60 33 228

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
XPNPEP3 8 5 136 60 33 227
CHADL, EP300, L3MBTL2, LOC112695097, LOC125446243, LOC126863158, LOC130067524, LOC130067525, LOC130067526, LOC130067527, LOC130067528, LOC130067529, LOC130067530, LOC130067531, LOC130067532, LOC130067533, LOC130067534, LOC130067535, LOC130067536, LOC130067537, MIR1281, MIR6889, RANGAP1, RBX1, SNORD140, XPNPEP3, ZC3H7B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 104 12 28 144
Invitae 3 2 39 45 9 98
Fulgent Genetics, Fulgent Genetics 0 1 7 7 0 15
OMIM 3 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 2

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