ClinVar Miner

List of variants reported for Semilobar holoprosencephaly by Laboratory of Molecular Genetics, CHU Rennes

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_033163.5(FGF8):c.317C>A (p.Ala106Glu) rs876661328
NM_033163.5(FGF8):c.356C>T (p.Thr119Met) rs876661329

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