ClinVar Miner

List of variants reported as benign for Microcephaly 21, primary, autosomal recessive by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014865.4(NCAPD2):c.247C>G (p.Gln83Glu) rs714774 0.79942
NM_014865.4(NCAPD2):c.2566+30A>T rs7311174 0.79246
NM_014865.4(NCAPD2):c.3300T>C (p.Arg1100=) rs2072374 0.79236
NM_014865.4(NCAPD2):c.3801A>G (p.Val1267=) rs1043262 0.77887
NM_014865.4(NCAPD2):c.1920C>A (p.Ile640=) rs917634 0.50857
NM_014865.4(NCAPD2):c.3573-13C>T rs7316224 0.34606
NM_014865.4(NCAPD2):c.127+27C>T rs6489718 0.34476
NM_014865.4(NCAPD2):c.3483C>T (p.Asn1161=) rs740850 0.34433

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