List of variants reported as benign for ectodermal dysplasia and immunodeficiency 2 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_020529.3(NFKBIA):c.*126G>A	rs696	0.44653
NC_000014.9:g.35405593G>A	rs2233406	0.26309
NC_000014.9:g.35405648T>C	rs3138053	0.26291
NM_020529.3(NFKBIA):c.81C>T (p.Asp27=)	rs1957106	0.24766
NC_000014.9:g.35405064G>A	rs2233409	0.19281
NM_020529.3(NFKBIA):c.306C>T (p.Ala102=)	rs1050851	0.15413
NM_020529.3(NFKBIA):c.636+17C>T	rs2233419	0.15155
NM_020529.3(NFKBIA):c.243C>T (p.Ala81=)	rs2233412	0.00874
NM_020529.3(NFKBIA):c.548-3C>T	rs2233418	0.00648
NM_020529.3(NFKBIA):c.581G>C (p.Gly194Ala)	rs148656104	0.00287
NM_020529.3(NFKBIA):c.227+16C>T	rs539047415	0.00093
NM_020529.3(NFKBIA):c.903C>T (p.Asp301=)	rs146132589	0.00052
NM_020529.3(NFKBIA):c.78G>A (p.Leu26=)	rs8192285	0.00037
NM_020529.3(NFKBIA):c.554C>T (p.Thr185Met)	rs142195196	0.00036
NM_020529.3(NFKBIA):c.337-20G>A	rs371120371	0.00021
NM_020529.3(NFKBIA):c.941G>A (p.Arg314His)	rs142970414	0.00006
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu)	rs371482940	0.00005
NM_020529.3(NFKBIA):c.906+20C>T	rs368801300	0.00004
NM_020529.3(NFKBIA):c.326A>G (p.Asn109Ser)	rs150221265	0.00002
NM_020529.3(NFKBIA):c.162C>T (p.Leu54=)	rs138468321	0.00001
NM_020529.3(NFKBIA):c.336+3G>A	rs769147621	0.00001
NM_020529.3(NFKBIA):c.866A>G (p.Tyr289Cys)	rs957688002	0.00001
NC_000014.9:g.35405317T>A	rs2233407
NC_000014.9:g.35405505del	rs17103265
NM_020529.3(NFKBIA):c.140A>G (p.Lys47Arg)	rs1594427886
NM_020529.3(NFKBIA):c.151G>A (p.Glu51Lys)
NM_020529.3(NFKBIA):c.336+20C>A	rs754935304
NM_020529.3(NFKBIA):c.509C>G (p.Pro170Arg)
NM_020529.3(NFKBIA):c.532G>A (p.Ala178Thr)
NM_020529.3(NFKBIA):c.577C>A (p.His193Asn)	rs2052742904
NM_020529.3(NFKBIA):c.636+16_636+17delinsTT
NM_020529.3(NFKBIA):c.907-11del
NM_020529.3(NFKBIA):c.907-15del
NM_020529.3(NFKBIA):c.907-15dup	rs775742609

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