ClinVar Miner

List of variants reported as uncertain significance for Metaphyseal chondrodysplasia, McKusick type by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.270T>C rs551655682 0.00021
NR_003051.3(RMRP):n.271T>C rs377349293 0.00007
NR_003051.4(RMRP):n.37C>A rs549085067 0.00005
NR_003051.4(RMRP):n.146C>T rs759632477 0.00003
NR_003051.4(RMRP):n.263C>G rs533294975 0.00003
NR_003051.4(RMRP):n.215C>T rs772665785 0.00002
NR_003051.3(RMRP):n.-15delT rs1554651530 0.00001
NR_003051.3(RMRP):n.-20_-18delCTC rs1210447003 0.00001
NR_003051.3(RMRP):n.-20_-18dupCTC rs1554651542 0.00001
NR_003051.3(RMRP):n.-2_6dup8 rs1169511671 0.00001
NR_003051.3(RMRP):n.-7delA rs911564838 0.00001
NR_003051.4(RMRP):n.122_124dup rs1240755048 0.00001
NR_003051.4(RMRP):n.130C>T rs1335579840 0.00001
NR_003051.4(RMRP):n.256C>G rs1170858087 0.00001
NR_003051.4(RMRP):n.67delA rs1317019943 0.00001
NR_003051.4(RMRP):n.71_72delGA rs1491544612 0.00001
NR_003051.3(RMRP):n.-10_-5dup6 rs1554651437
NR_003051.3(RMRP):n.-14_-13dupGA rs1554651511
NR_003051.3(RMRP):n.-15_-14delTG rs1554651515
NR_003051.3(RMRP):n.-17_-15dupTGT rs1554651531
NR_003051.3(RMRP):n.-18_-17dup rs1554651536
NR_003051.3(RMRP):n.-21_-17dup5 rs1472119885
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-25_-24delTA rs1160072325
NR_003051.3(RMRP):n.-29_-23del7 rs1554651555
NR_003051.3(RMRP):n.-30_-21del10 rs1554651552
NR_003051.3(RMRP):n.-4A>G rs555890962
NR_003051.3(RMRP):n.-50delA rs1168028338
NR_003051.3(RMRP):n.-50dupA rs1168028338
NR_003051.3(RMRP):n.-54T>A rs181777676
NR_003051.3(RMRP):n.-55delA rs1554651600
NR_003051.3(RMRP):n.-57_-54delTCATinsCCA rs1554651593
NR_003051.3(RMRP):n.-5_6dup11 rs1554651348
NR_003051.3(RMRP):n.-73_-71delCCA rs1587920033
NR_003051.3(RMRP):n.146C>T rs757576534
NR_003051.4(RMRP):n.101C>T rs536333075
NR_003051.4(RMRP):n.116_117insCC rs1554651212
NR_003051.4(RMRP):n.125_126dup rs1554651193
NR_003051.4(RMRP):n.13_14insT rs1554651339
NR_003051.4(RMRP):n.141dup rs1554651181
NR_003051.4(RMRP):n.149C>T rs1085307765
NR_003051.4(RMRP):n.154A>C rs1428585182
NR_003051.4(RMRP):n.154A>G rs1428585182
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.178_179GC[3] rs1554651154
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.196_204delTCAGCTCCC rs1554651129
NR_003051.4(RMRP):n.235_238ACCA[1] rs1554651108
NR_003051.4(RMRP):n.237_242delCAACCA rs1554651106
NR_003051.4(RMRP):n.238A>C rs771464779
NR_003051.4(RMRP):n.244A>C rs551450545
NR_003051.4(RMRP):n.245C>T rs1260135124
NR_003051.4(RMRP):n.250C>T rs1554651104
NR_003051.4(RMRP):n.256C>A rs1170858087
NR_003051.4(RMRP):n.25_43del19 rs1554651292
NR_003051.4(RMRP):n.2_6dup rs1554651347
NR_003051.4(RMRP):n.37_38delCT rs1554651307
NR_003051.4(RMRP):n.45delT rs1554651291
NR_003051.4(RMRP):n.52C>T rs1064793373
NR_003051.4(RMRP):n.66T>A rs1357036842
NR_003051.4(RMRP):n.71_72dup rs1554651256
NR_003051.4(RMRP):n.73A>G rs1554651251
NR_003051.4(RMRP):n.99_101delGCC rs1554651230

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.