List of variants in gene LOC129996517, POLR1C studied for mandibulofacial dysostosis

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_203290.4(POLR1C):c.-15G>A	rs2231757	0.01357
NM_203290.4(POLR1C):c.-4G>A	rs2231756	0.00388
NM_203290.4(POLR1C):c.-8G>A	rs142683244	0.00081
NM_203290.4(POLR1C):c.65G>A (p.Arg22His)	rs149529196	0.00018
NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly)	rs200115914	0.00003
NM_203290.4(POLR1C):c.-21A>G	rs190872536
NM_203290.4(POLR1C):c.53del (p.Glu18fs)

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