ClinVar Miner

List of variants reported as likely pathogenic for Microcephaly

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Total variants: 6
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HGVS dbSNP
NM_004856.6(KIF23):c.755T>A (p.Leu252His) rs748016594
NM_005710.2:c.725_727del
NM_015114.2(ANKLE2):c.1717C>G (p.Leu573Val) rs863225465
NM_018136.4(ASPM):c.1729_1730delAG (p.Ser577Argfs) rs199422146
NM_018136.4(ASPM):c.7573_7574del (p.Glu2525Lysfs) rs1060499757
NM_018136.4(ASPM):c.9084+5G>A rs1060499758

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