ClinVar Miner

List of variants reported for Holoprosencephaly sequence by Muenke lab, National Institutes of Health

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.880G>A (p.Glu294Lys) rs528376963 0.00003
NM_033163.5(FGF8):c.130C>T (p.Arg44Trp) rs781205876 0.00003
NM_001377229.1(DISP1):c.743C>T (p.Ala248Val) rs1029577112 0.00001
NM_033163.5(FGF8):c.398C>T (p.Thr133Met) rs61730334 0.00001
NM_000193.4(SHH):c.468C>A (p.Ser156Arg) rs1554494372
NM_001378074.1(BOC):c.1670G>A (p.Gly557Glu) rs1553745274
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) rs1567417422
NM_033163.5(FGF8):c.157-1G>A rs1554834892
NM_033163.5(FGF8):c.157G>C (p.Val53Leu) rs1554834889
NM_033163.5(FGF8):c.356C>T (p.Thr119Met) rs876661329
NM_033163.5(FGF8):c.444+1G>A rs1490604080
NM_033163.5(FGF8):c.469G>T (p.Val157Phe) rs139565972
NM_033163.5(FGF8):c.497A>G (p.Asn166Ser) rs778082287
NM_033163.5(FGF8):c.559_573del (p.Arg187_Gly191del) rs1554834321
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290

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