List of variants in gene POLR1C reported as pathogenic for mandibulofacial dysostosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)	rs191582628	0.00010
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp)	rs141156009	0.00008
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter)	rs387907020	0.00001
NM_203290.4(POLR1C):c.616del (p.Gln206fs)	rs1156407486
NM_203290.4(POLR1C):c.87del (p.Gly31fs)	rs2127686639
NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs)	rs767639108
NM_203290.4(POLR1C):c.922+3_922+6del	rs1335699710

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