ClinVar Miner

List of variants reported as likely pathogenic for Holoprosencephaly sequence

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Total variants: 9
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HGVS dbSNP
NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys) rs876661335
NM_033164.4(FGF8):c.157-33G>C rs1554834889
NM_033164.4(FGF8):c.157-34G>A rs1554834892
NM_033164.4(FGF8):c.323C>T (p.Thr108Met) rs876661329
NM_033164.4(FGF8):c.352C>T (p.Arg118Ter) rs876661330
NM_033164.4(FGF8):c.365C>T (p.Thr122Met) rs61730334
NM_033164.4(FGF8):c.411+1G>A rs1490604080
NM_033164.4(FGF8):c.436G>T (p.Val146Phe) rs139565972
NM_033164.4(FGF8):c.584G>A (p.Arg195Gln) rs876661331

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