ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego and "uncertain significance" from any submitter

Minimum review status of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego: Collection method of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_001032386.2(SUOX):c.1390_1391del (p.Leu464fs) rs1592831898
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter) rs1383727273
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_022114.4(PRDM16):c.213del (p.Val72fs) rs1569798933
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_206538.4(EMC10):c.287del (p.Gly96fs) rs770255014
Single allele

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.