ClinVar Miner

List of variants studied for Microcephaly 22, primary, autosomal recessive by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015261.3(NCAPD3):c.2892A>G (p.Val964=) rs2276265 0.46126
NM_015261.3(NCAPD3):c.1525+18T>A rs2305379 0.30281
NM_015261.3(NCAPD3):c.1689+20A>G rs1125399 0.27325
NM_015261.3(NCAPD3):c.1090-33A>G rs10791349 0.17800
NM_015261.3(NCAPD3):c.1215+28G>A rs896409

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