List of variants in gene EDNRA reported as uncertain significance for Inborn genetic diseases

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001957.4(EDNRA):c.463G>A (p.Val155Ile)	rs200206289	0.00006
NM_001957.4(EDNRA):c.1007T>C (p.Met336Thr)	rs369936798	0.00001
NM_001957.4(EDNRA):c.286G>A (p.Val96Met)	rs144440640	0.00001
NM_001957.4(EDNRA):c.742A>G (p.Met248Val)	rs200425226	0.00001
NM_001957.4(EDNRA):c.815C>T (p.Ala272Val)	rs1462059537	0.00001
NM_001957.4(EDNRA):c.1030C>G (p.Leu344Val)	rs2530419685
NM_001957.4(EDNRA):c.1259G>A (p.Ser420Asn)
NM_001957.4(EDNRA):c.209C>T (p.Pro70Leu)
NM_001957.4(EDNRA):c.249C>A (p.Asn83Lys)	rs2530292137
NM_001957.4(EDNRA):c.350C>G (p.Ala117Gly)
NM_001957.4(EDNRA):c.427G>A (p.Ala143Thr)
NM_001957.4(EDNRA):c.503C>T (p.Ser168Leu)	rs1224900173
NM_001957.4(EDNRA):c.58A>G (p.Ser20Gly)
NM_001957.4(EDNRA):c.665T>C (p.Ile222Thr)	rs201704208
NM_001957.4(EDNRA):c.756A>C (p.Gln252His)	rs1469453376
NM_001957.4(EDNRA):c.901C>T (p.Arg301Cys)	rs2530419232

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