ClinVar Miner

List of variants in gene RMRP reported as uncertain significance for anauxetic dysplasia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NR_003051.3(RMRP):n.-10C>T
NR_003051.3(RMRP):n.-11G>A
NR_003051.3(RMRP):n.-15T>C
NR_003051.3(RMRP):n.-18C>G
NR_003051.3(RMRP):n.-20C>G rs183974004
NR_003051.3(RMRP):n.-20C>T
NR_003051.3(RMRP):n.-21A>C
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-24A>T
NR_003051.3(RMRP):n.-26_1dup rs1554651385
NR_003051.3(RMRP):n.-2G>A rs958637129
NR_003051.3(RMRP):n.-31A>G
NR_003051.3(RMRP):n.-53A>G
NR_003051.3(RMRP):n.-54T>A rs181777676
NR_003051.3(RMRP):n.-58_-57delinsGC
NR_003051.3(RMRP):n.-5G>T
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.-88dup
NR_003051.3(RMRP):n.111G>A rs1031995271
NR_003051.3(RMRP):n.112C>T rs1479610947
NR_003051.3(RMRP):n.114C>G
NR_003051.3(RMRP):n.115G>A
NR_003051.3(RMRP):n.120C>T
NR_003051.3(RMRP):n.121_123dup rs1240755048
NR_003051.3(RMRP):n.124C>A rs758130879
NR_003051.3(RMRP):n.138C>T
NR_003051.3(RMRP):n.140A>G rs578091934
NR_003051.3(RMRP):n.143G>C
NR_003051.3(RMRP):n.145C>T rs759632477
NR_003051.3(RMRP):n.146C>G
NR_003051.3(RMRP):n.146C>T rs757576534
NR_003051.3(RMRP):n.149C>T
NR_003051.3(RMRP):n.159A>G rs535595484
NR_003051.3(RMRP):n.159_175dup
NR_003051.3(RMRP):n.162C>T
NR_003051.3(RMRP):n.180dup rs940080676
NR_003051.3(RMRP):n.181G>C rs1004469515
NR_003051.3(RMRP):n.185G>T
NR_003051.3(RMRP):n.185del
NR_003051.3(RMRP):n.195dup rs796065036
NR_003051.3(RMRP):n.19G>C
NR_003051.3(RMRP):n.1G>A rs773520232
NR_003051.3(RMRP):n.215A>G
NR_003051.3(RMRP):n.231C>T
NR_003051.3(RMRP):n.232G>A
NR_003051.3(RMRP):n.233C>T rs1193906088
NR_003051.3(RMRP):n.238_241del rs1554651108
NR_003051.3(RMRP):n.239C>T
NR_003051.3(RMRP):n.246G>A
NR_003051.3(RMRP):n.257_266del rs1383432106
NR_003051.3(RMRP):n.264G>A rs578123788
NR_003051.3(RMRP):n.26A>G rs1554651331
NR_003051.3(RMRP):n.35A>G
NR_003051.3(RMRP):n.36C>A rs549085067
NR_003051.3(RMRP):n.36C>G
NR_003051.3(RMRP):n.36C>T rs549085067
NR_003051.3(RMRP):n.45C>T
NR_003051.3(RMRP):n.46T>C
NR_003051.3(RMRP):n.58_59insA
NR_003051.3(RMRP):n.5C>T rs772443941
NR_003051.3(RMRP):n.62G>A rs544069410
NR_003051.3(RMRP):n.66A>G rs530883024
NR_003051.3(RMRP):n.67G>A
NR_003051.3(RMRP):n.7T>G rs587781140
NR_003051.3(RMRP):n.96G>A

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.