ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center and "pathogenic" from any submitter

Minimum review status of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center: Collection method of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 29
Download table as spreadsheet
HGVS dbSNP
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) rs115129687
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_002055.5(GFAP):c.934G>T (p.Glu312Ter) rs763868966
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_173170.1(IL36RN):c.28C>T (p.Arg10Ter) rs397514630
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063

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.