ClinVar Miner

Variants in gene DEAF1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly) rs1064795812 0.00001
NM_021008.4(DEAF1):c.1090_1091del (p.Pro365fs) rs756419434
NM_021008.4(DEAF1):c.641T>C (p.Leu214Pro) rs1590017658
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser) rs751569402
NM_021008.4(DEAF1):c.791A>C (p.Gln264Pro) rs587777407
NM_021008.4(DEAF1):c.837C>G (p.Cys279Trp)
NM_021008.4(DEAF1):c.890T>C (p.Phe297Ser) rs1390761338

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