ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Richard Lifton Laboratory, Yale University School of Medicine and "uncertain significance" from any submitter

Minimum review status of the submission from Richard Lifton Laboratory, Yale University School of Medicine: Collection method of the submission from Richard Lifton Laboratory, Yale University School of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716 0.00001
NM_032866.5(CGNL1):c.2322T>C (p.His774=) rs483352760 0.00001
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000546.6(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu) rs483352688
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_002499.4(NEO1):c.2935C>G (p.Pro979Ala) rs483352721
NM_014233.4(UBTF):c.2164G>T (p.Asp722Tyr) rs483352703
NM_032632.5(PAPOLA):c.1464A>G (p.Val488=) rs483352759

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