ClinVar Miner

List of variants reported for Ateleiotic dwarfism by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg) rs587779351 0.00002
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) rs397514487 0.00001
NM_000059.4(BRCA2):c.9152del (p.Pro3051fs) rs587779349
NM_001080449.3(DNA2):c.3114+6del rs587777614
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs) rs587779356
NM_014171.6(CRIPT):c.141del (p.Phe47fs) rs587779348

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