ClinVar Miner

List of variants reported as likely pathogenic for anauxetic dysplasia 1 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.-22_-6dup rs727502777 0.00002
NC_000009.12:g.35658029_35658058dup rs1823643256 0.00001
NR_003051.3(RMRP):n.-20_-8dup rs1823640657 0.00001
NR_003051.3(RMRP):n.-23_-10dup rs1554651489 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NC_000009.12:g.35658016_35658035dup rs1823629969
NC_000009.12:g.35658018_35658032dup rs1823630945
NC_000009.12:g.35658019_35658041dup rs2131809458
NC_000009.12:g.35658019_35658046dup rs2131809467
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGACGT rs1218494857
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTACACGT rs1554651368
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTAGTACGT rs1218494857
NC_000009.12:g.35658023_35658024insTCAGCTTCACAGACTAGTATACGTT rs1554651439
NC_000009.12:g.35658023_35658024insTCAGCTTCACAGAGTAGTT rs1554651439
NC_000009.12:g.35658023_35658032dup rs1823637418
NC_000009.12:g.35658023_35658048dup rs2131809742
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658029CTTCACAGAGTAG[3] rs751921616
NC_000009.12:g.35658031TCACAGAGTAGT[4] rs781730798
NC_000009.12:g.35658031TCACAGAGTA[3] rs1554651507
NC_000009.12:g.35658032CACAGAGTA[4] rs1563908167
NC_000009.12:g.35658032_35658047dup rs1823644118
NC_000009.12:g.35658041_35658042insGTGAGTAG rs930432793
NC_000009.12:g.35658043_35658044insGCTGAGTAGTA rs1554651544
NC_000009.12:g.35658064_35658065insTTGTTTTATGGTTAGGGTCCTCAGCTTCACAGAGTAGTATTTTATAGCCCTAAAGAAATT rs2131809584
NR_003051.3(RMRP):n.-17_-4dup rs1823636018
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-22_-1dup rs1554651387
NR_003051.3(RMRP):n.-22_-5dup rs1823637755
NR_003051.3(RMRP):n.-22_-9dup rs1823641711
NR_003051.3(RMRP):n.-5delins17
NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC rs1554651349
NR_003051.4(RMRP):n.213C>G rs192060920
NR_003051.4(RMRP):n.264G>C rs727502774
NR_003051.4(RMRP):n.37C>G rs549085067

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.