ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99679
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.81072
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.78251
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.78235
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.76088
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30399
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30390
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25519
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.17676
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.17583
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00649
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365

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