ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665

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