ClinVar Miner

List of variants studied for X-linked disease by GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies

Included ClinVar conditions (276):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.-142C>G rs199422241 0.00227
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) rs750585274

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