ClinVar Miner

List of variants reported as pathogenic for autoimmune enteropathy by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp) rs28935477 0.00002
NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) rs768767763 0.00001
NC_000002.11:g.(?_191835429)_(192012929_?)del
NC_000023.10:g.(?_46466387)_(50659607_?)del
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1159A>G (p.Thr387Ala)
NM_007315.4(STAT1):c.1162A>C (p.Lys388Gln) rs1559011859
NM_007315.4(STAT1):c.1162A>G (p.Lys388Glu)
NM_007315.4(STAT1):c.1231_1232del (p.Glu411fs) rs2125029430
NM_007315.4(STAT1):c.1286_1287del (p.Glu429fs)
NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) rs1692619276
NM_007315.4(STAT1):c.1398C>A (p.Ser466Arg) rs763759889
NM_007315.4(STAT1):c.1999_2000del (p.Leu667fs) rs2125000306
NM_007315.4(STAT1):c.200A>C (p.Gln67Pro)
NM_007315.4(STAT1):c.604A>G (p.Met202Val) rs387906762
NM_007315.4(STAT1):c.71_74dup (p.Ser25fs) rs1382612689
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.802G>T (p.Glu268Ter) rs2125062900
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007315.4(STAT1):c.861C>G (p.Tyr287Ter)
NM_007315.4(STAT1):c.862A>G (p.Thr288Ala) rs387906765
NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) rs1693751220
NM_007315.4(STAT1):c.866A>G (p.Tyr289Cys) rs1553496850
NM_007315.4(STAT1):c.961A>G (p.Arg321Gly)
NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala) rs886044787
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) rs1557115786
NM_014009.4(FOXP3):c.1087A>G (p.Ile363Val) rs2147944391
NM_014009.4(FOXP3):c.1099T>C (p.Phe367Leu) rs122467175
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr) rs122467170
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014009.4(FOXP3):c.142C>T (p.Arg48Ter) rs2066088072
NM_014009.4(FOXP3):c.210+1G>A rs886041596
NM_014009.4(FOXP3):c.210+1G>T rs886041596
NM_014009.4(FOXP3):c.2T>A (p.Met1Lys) rs2147949777
NM_014009.4(FOXP3):c.694T>G (p.Cys232Gly) rs1569529715
NM_014009.4(FOXP3):c.736-2A>T rs2147947315
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_014009.4(FOXP3):c.751_753del (p.Glu251del) rs122467171

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