Variants
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rs483353058

  • Likely pathogenic

Your Genotype

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Description

Reference Allele

G


Alternative Allele

C

Chromosome

22


Location

37973769


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.1127C>G (p.Ser376Ter)


Allele

C


Clinical Significance

Likely pathogenic

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