ClinVar Miner

List of variants studied for Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities by SIB Swiss Institute of Bioinformatics

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Total variants: 9
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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.50C>T (p.Thr17Met) rs148893823 0.00003
NM_004539.4(NARS1):c.1264G>A (p.Ala422Thr) rs769070609 0.00002
NM_004539.4(NARS1):c.1376C>T (p.Thr459Ile) rs774597440 0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys) rs770931044 0.00001
NM_004539.4(NARS1):c.394G>T (p.Gly132Cys) rs1402942713 0.00001
NM_004539.4(NARS1):c.1049T>C (p.Leu350Pro) rs2122428612
NM_004539.4(NARS1):c.178A>G (p.Lys60Glu) rs2122452114
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro) rs771435243

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