ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Human Genetics, Inc, Center for Human Genetics, Inc and "likely pathogenic" from any submitter

Minimum review status of the submission from Center for Human Genetics, Inc, Center for Human Genetics, Inc: Collection method of the submission from Center for Human Genetics, Inc, Center for Human Genetics, Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr) rs1555395261
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg) rs786203824
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg) rs1555535179
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670

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