ClinVar Miner

List of variants reported as likely pathogenic for Primary autosomal recessive microcephaly 5

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Total variants: 9
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HGVS dbSNP
NM_018136.5(ASPM):c.2T>C (p.Met1Thr) rs761447719
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter) rs797045314
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018136.5(ASPM):c.688del (p.Glu230fs) rs1557966012
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs) rs1064795945
NM_018136.5(ASPM):c.6928C>T (p.Gln2310Ter) rs745997770
NM_018136.5(ASPM):c.972_973del (p.Asn324fs) rs765275884
NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu) rs201362977

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