ClinVar Miner

List of variants reported as likely pathogenic for Microcephaly

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Total variants: 7
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NM_007118.4(TRIO):c.2560C>T (p.Gln854Ter) rs1435239428
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) rs863225465
NM_018136.5(ASPM):c.1727_1728AG[1] (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.7571_7572GA[1] (p.Glu2525fs) rs1060499757
NM_018136.5(ASPM):c.9084+5G>A rs1060499758
NM_138555.4(KIF23):c.755T>A (p.Leu252His) rs748016594
NM_144495.2(PQBP1):c.437_439AGC[1] (p.Gln147del) rs1602333390

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