ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) rs199422141
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs) rs199422144
NM_018136.5(ASPM):c.1932del (p.Phe645fs) rs2125112411
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4250_4251del (p.Arg1416_Tyr1417insTer) rs1571602991
NM_018136.5(ASPM):c.5590_5591del (p.Leu1864fs) rs1571601267
NM_018136.5(ASPM):c.6513dup (p.Val2172fs) rs1571600045
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8700_8702delinsCC (p.Lys2900fs) rs2125093294
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter) rs199422199

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