ClinVar Miner

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

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: 8
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HGVS dbSNP
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_004646.3(NPHS1):c.2335-1G>A rs150038620
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260
NM_033380.3(COL4A5):c.546+2dup rs1569489353
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223

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