ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1598_1601del (p.Asn533fs)
NM_018136.5(ASPM):c.2027-516G>T
NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe) rs2125107877
NM_018136.5(ASPM):c.3742-1G>C
NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)
NM_018136.5(ASPM):c.5590_5591del (p.Leu1864fs) rs1571601267
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) rs587783287

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