ClinVar Miner

Variants in gene DDC 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: 8
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HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu) rs746244631 0.00002
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp) rs542063660 0.00001
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys) rs142110773 0.00001
NM_000790.4(DDC):c.316del rs1364054304
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
NM_001082971.2(DDC):c.140C>A (p.Pro47His)

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