List of variants reported as pathogenic for Holoprosencephaly 5 by Muenke lab, National Institutes of Health

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_007129.3:c.1148_1464del
NM_007129.5(ZIC2):c.1095_1096del (p.Cys365_Glu366delinsTer)	rs1060499562
NM_007129.5(ZIC2):c.1097_1098del (p.Glu366fs)	rs1060499564
NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup)	rs756225250
NM_007129.5(ZIC2):c.321del (p.Tyr108fs)	rs1555332212
NM_007129.5(ZIC2):c.793C>T (p.Gln265Ter)	rs1060499563

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