ClinVar Miner

List of variants reported as pathogenic for Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive by OMIM

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Total variants: 5
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HGVS dbSNP
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020
POLR1C, 1-BP DEL, 87T
POLR1C, IVS8, 4-BP DEL, +3

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