List of variants in gene EDNRA studied for mandibulofacial dysostosis

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

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001957.4(EDNRA):c.1005G>A (p.Glu335=)	rs5334	0.34511
NM_001957.4(EDNRA):c.969T>C (p.His323=)	rs5333	0.34483
NM_001957.4(EDNRA):c.1146A>G (p.Ser382=)	rs141331809	0.00377
NM_001957.4(EDNRA):c.24A>G (p.Ala8=)	rs146092355	0.00096
NM_001957.4(EDNRA):c.549-10T>C	rs10305905	0.00048
NM_001957.4(EDNRA):c.354G>A (p.Leu118=)	rs201702493	0.00009
NM_001957.4(EDNRA):c.1110T>C (p.Tyr370=)	rs2292764	0.00004
NM_001957.4(EDNRA):c.1034+19G>A	rs10305924
NM_001957.4(EDNRA):c.386A>T (p.Tyr129Phe)	rs786205230
NM_001957.4(EDNRA):c.748-19_748-18insCT	rs71594223
NM_001957.4(EDNRA):c.907G>A (p.Glu303Lys)	rs876657388
NM_001957.4(EDNRA):c.955T>A (p.Trp319Arg)

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