ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital and "uncertain significance" 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:
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Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00024
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424 0.00004
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00002
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188 0.00001
NM_000348.4(SRD5A2):c.282-2A>G rs1340425455
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)

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