ClinVar Miner

List of variants studied for Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_004539.4(NARS1):c.245A>C (p.Lys82Thr)
NM_004539.4(NARS1):c.521C>T (p.Ser174Phe)

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