Variants
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rs786205547

  • Likely pathogenic

Your Genotype

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Description

Reference Allele

C


Alternative Allele

G

Chromosome

2


Location

219157471


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_024782.3(NHEJ1):c.390+1G>C


Allele

G


Clinical Significance

Likely pathogenic

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