ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_000193.4(SHH):c.468C>A (p.Ser156Arg) rs1554494372
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) rs1567417422
NM_032890.5(DISP1):c.743C>T (p.Ala248Val) rs1029577112
NM_033164.4(FGF8):c.464A>G (p.Asn155Ser) rs778082287
NM_033164.4(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_033254.4(BOC):c.1667G>A (p.Gly556Glu) rs1553745274

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