List of variants reported as pathogenic for Acrofacial dysostosis Cincinnati type by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln)	rs794729674
NM_015425.6(POLR1A):c.3649del (p.Gln1217fs)	rs875989814
NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del)	rs1064794956
NM_015425.6(POLR1A):c.4685G>T (p.Cys1562Phe)	rs1064795108

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