ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago and "likely pathogenic" from any submitter

Minimum review status of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago: Collection method of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837 0.00002
NM_000090.4(COL3A1):c.4254+3A>G rs376799861 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_172351.3(CD46):c.944-1G>C

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