ClinVar Miner

Variants in gene DEAF1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.553C>T (p.Gln185Ter) rs1860672898 0.00001
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs) rs1590028691
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) rs587777408
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg) rs1057524157
NM_021008.4(DEAF1):c.700T>G (p.Trp234Gly) rs1057524157
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr) rs1554944271
NM_021008.4(DEAF1):c.781C>T (p.Arg261Ter) rs778326610
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del) rs1554943158
NM_021008.4(DEAF1):c.926del (p.Leu309fs) rs1417226023
NM_021008.4(DEAF1):c.997+4A>C rs886040972

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