ClinVar Miner

Variants studied for Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U

Coded as:
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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
0 0 374 226 30 630

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination uncertain significance likely benign benign total
MARS1 354 213 29 596
ARHGAP9, MARS1 17 8 1 26
MARS1, MIR6758 2 5 0 7
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 1 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter uncertain significance likely benign benign total
Invitae 374 226 30 630
Fulgent Genetics, Fulgent Genetics 1 0 0 1

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