ClinVar Miner

Variants in gene DEAF1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala) rs767318857 0.00124
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser) rs138447102 0.00090
NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser) rs111947578 0.00046
NM_021008.4(DEAF1):c.1010C>G (p.Pro337Arg) rs372135504 0.00005
NM_021008.4(DEAF1):c.294G>A (p.Val98=) rs1038817783
NM_021008.4(DEAF1):c.51_92del (p.Val19_Ala32del) rs758496577
NM_021008.4(DEAF1):c.56_82del (p.Val19_Ala27del) rs768085739
NM_021008.4(DEAF1):c.60_86del (p.Val25_Ala33del) rs769664625
NM_021008.4(DEAF1):c.72_95del (p.Val25_Ala32del) rs752994574

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