ClinVar Miner

List of variants reported as benign for Amish lethal microcephaly by Illumina Laboratory Services, Illumina

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
NM_001126121.2(SLC25A19):c.-155T>G rs2291033 0.90349
NM_001126121.2(SLC25A19):c.*2T>C rs1809352 0.87805
NM_001126121.2(SLC25A19):c.*274C>G rs7198 0.53096
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_001126121.2(SLC25A19):c.*437T>G rs73356384 0.05669
NM_001126121.2(SLC25A19):c.*200G>A rs62622012 0.00766
NM_001126121.2(SLC25A19):c.*164G>A rs371154305

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