ClinVar Miner

List of variants reported as pathogenic for Acrofacial dysostosis, Cincinnati type

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Total variants: 3

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HGVS	dbSNP
NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln)	rs794729674
NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter)	rs1377622831
NM_015425.6(POLR1A):c.3649del (p.Gln1217fs)	rs875989814

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