ClinVar Miner

Variants in gene GDAP1 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: 5
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HGVS dbSNP
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978

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