ClinVar Miner

List of variants reported as uncertain significance for Microcephaly 17, primary, autosomal recessive by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met) rs180716474 0.00016
NM_001206999.2(CIT):c.3350+5G>A rs1565958864
NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro) rs1593442207

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