ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Gharavi Laboratory, Columbia University and "uncertain significance" from Invitae

Minimum review status of the submission from Gharavi Laboratory, Columbia University: Collection method of the submission from Gharavi Laboratory, Columbia University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg) rs104886067
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223

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