ClinVar Miner

List of variants studied for Holoprosencephaly sequence by Laboratory of Molecular Genetics,CHU RENNES

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Total variants: 4
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NM_005618.3(DLL1):c.1802_1804delACA (p.Asp601_Ile602delinsVal) rs573197356
NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys) rs876661335
NM_033163.3(FGF8):c.385C>T (p.Arg129Ter) rs876661330
NM_033163.3(FGF8):c.617G>A (p.Arg206Gln) rs876661331

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