ClinVar Miner

Variants studied for anauxetic dysplasia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
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
27 89 173 17 8 313

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RMRP 26 89 172 17 8 311
ARHGEF39, C9orf131, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CLTA, CREB3, DNAJB5, DNAJB5-DT, FAM166B, FAM205A, FAM205C, FAM214B, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, LINC00950, LOC101926948, LOC111365206, LOC111721710, LOC113839547, LOC113839549, LOC730098, MIR4667, MIR6852, MIR6853, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RUSC2, SIT1, SPAAR, SPAG8, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 0 0 1 0 0 1
CCDC107, RMRP 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 88 173 17 8 309
OMIM 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 1 1 0 0 3

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