ClinVar Miner

Variants in gene DIS3L2 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter) rs760123810 0.00001
NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter) rs766629924 0.00001
NM_152383.5(DIS3L2):c.127C>T (p.Arg43Ter) rs762653147 0.00001
NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter) rs773260717 0.00001
NM_152383.5(DIS3L2):c.2302del (p.Leu768fs)
NM_152383.5(DIS3L2):c.325dup (p.Asp109fs) rs1441475659
NM_152383.5(DIS3L2):c.48del (p.Arg17fs) rs2106220804
NM_152383.5(DIS3L2):c.645del (p.Cys216fs) rs1328362747
NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter) rs199648534

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