ClinVar Miner

List of variants studied for Polymicrogyria by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005560.6(LAMA5):c.10726G>A (p.Glu3576Lys) rs139502000 0.00371
NM_001004432.4(LINGO4):c.851C>T (p.Ser284Phe) rs151205204 0.00287
NM_001004432.4(LINGO4):c.1262G>A (p.Arg421Gln) rs143154971 0.00011
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln) rs374201203 0.00007
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_005560.6(LAMA5):c.7114G>A (p.Asp2372Asn) rs111653839

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