ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital and "pathogenic" 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: 11
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) rs754221948 0.00001
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly) rs878853894 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721

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