ClinVar Miner

Variants studied for Ciliary dyskinesia

Coded as:
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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
329 77 1891 732 607 3401

Gene and significance breakdown #

Total genes and gene combinations: 43
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DNAH11 41 9 394 145 128 642
DNAH5 107 23 345 119 93 635
DNAH8 9 4 128 65 49 255
CCDC40 22 5 113 45 44 203
DNAL1 0 1 111 29 12 153
DNAAF1 12 2 74 28 29 131
DNAAF2 8 2 76 19 20 112
CCDC39 28 2 54 27 11 111
DNAI2 11 1 61 15 24 102
DNAI1 13 4 59 18 10 94
DNAAF3 7 2 52 23 7 86
DNAAF5 5 2 44 17 14 82
CCDC114 5 1 35 15 25 81
RSPH4A 15 0 45 14 10 74
DRC1 1 2 35 18 14 70
DNAH8, LOC100131047 2 3 28 16 20 69
RSPH1 7 2 23 14 9 55
CCDC39, TTC14 2 1 32 11 6 49
DNAAF4, DNAAF4-CCPG1 8 3 24 3 4 42
RPGR 1 1 6 8 26 42
CDCA7L, DNAH11 2 1 25 9 5 39
CCDC103 2 1 21 8 0 32
CCNO 6 1 15 5 5 32
ZMYND10 2 2 14 5 8 31
C21orf59-TCP10L, CFAP298 3 0 15 4 5 27
MCIDAS 1 0 6 12 5 24
RSPH9 3 1 14 6 2 24
DNAAF5, PRKAR1B 2 0 13 6 0 21
DNAAF3, TNNI3 0 0 1 9 7 17
CCDC103, GFAP 0 0 7 7 0 14
CCDC40, GAA 0 0 0 6 8 13
LRRC6 0 0 8 3 1 12
DNAAF1, TAF1C 1 0 4 0 1 6
DNAAF2, MGAT2 0 0 0 2 4 6
DNAH5, LOC107457585 1 0 4 1 0 6
CCDC40, MIR1268B 0 0 2 0 0 2
AK7 0 0 1 0 0 1
ARMC4 1 0 0 0 0 1
CBS, CRYAA, ERVH48-1, FRGCA, LINC01668, LINC01671, LOC101930094, LOC110121500, MIR5692B, NDUFV3, PDE9A, PKNOX1, RSPH1, SLC37A1, U2AF1, WDR4 0 0 1 0 0 1
CCDC65 0 1 0 0 0 1
CFAP298, SYNJ1 0 0 1 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 0 0 1 1
OFD1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 322 63 1189 547 514 2635
Illumina Clinical Services Laboratory,Illumina 0 1 760 185 93 1039
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 11 0 0 0 21
Fulgent Genetics 0 0 4 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 0 2 0 0 0 2
OMIM 0 0 1 0 0 1
Molecular and Clinical Genetics,Institute of Human Genetics P.A.S. 1 0 0 0 0 1

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