ClinVar Miner

List of variants in gene NCAPD3 reported as uncertain significance for Microcephaly 22, primary, autosomal recessive

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015261.3(NCAPD3):c.2257A>G (p.Asn753Asp) rs138551616 0.00106
NM_015261.3(NCAPD3):c.2135C>T (p.Thr712Met) rs143833204 0.00081
NM_015261.3(NCAPD3):c.1000G>A (p.Ala334Thr) rs140427183 0.00039
NM_015261.3(NCAPD3):c.2062G>T (p.Ala688Ser) rs1249831283
NM_015261.3(NCAPD3):c.2707G>A (p.Ala903Thr) rs1207215795
NM_015261.3(NCAPD3):c.2816A>G (p.Lys939Arg)
NM_015261.3(NCAPD3):c.3197_3198del (p.Asn1065_Tyr1066insTer)

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