ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and "likely benign" from any submitter

Minimum review status of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 27
Download table as spreadsheet
HGVS dbSNP
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_001035.3(RYR2):c.8209-3A>G rs376788358
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_006079.5(CITED2):c.479A>T (p.His160Leu) rs111814036
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_018328.4(MBD5):c.2979G>C (p.Gln993His) rs148321416
NM_018328.4(MBD5):c.4271C>A (p.Pro1424His) rs775673512
NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) rs149278000
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705
NM_144573.3(NEXN):c.242A>T (p.Asp81Val) rs367871780

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.