ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val) rs2125105601
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.688del (p.Glu230fs) rs1557966012
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs) rs1571596976
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter) rs2125088498

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