ClinVar Miner

List of variants reported as likely pathogenic for autoimmune enteropathy by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.1127+1G>A
NM_007315.4(STAT1):c.1128-1G>A
NM_007315.4(STAT1):c.1166T>G (p.Val389Gly) rs1692876152
NM_007315.4(STAT1):c.1198C>G (p.Leu400Val)
NM_007315.4(STAT1):c.1632+1G>A
NM_007315.4(STAT1):c.2102A>G (p.Tyr701Cys) rs2124996723
NM_007315.4(STAT1):c.2135+2T>A rs2124996603
NM_007315.4(STAT1):c.511G>A (p.Asp171Asn) rs2125075054
NM_007315.4(STAT1):c.516C>G (p.Phe172Leu)
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.851A>G (p.Glu284Gly) rs1693752801
NM_007315.4(STAT1):c.856A>C (p.Lys286Gln) rs1693752377
NM_007315.4(STAT1):c.865T>C (p.Tyr289His)
NM_007315.4(STAT1):c.876C>A (p.Asp292Glu) rs1085307649
NM_007315.4(STAT1):c.970T>C (p.Cys324Arg) rs1574653439
NM_007315.4(STAT1):c.974T>A (p.Met325Lys)
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1151C>T (p.Ala384Val) rs2147944159
NM_014009.4(FOXP3):c.1270_1272delinsC (p.Cys424fs) rs1569529565
NM_014009.4(FOXP3):c.315+2T>A rs2147949090
NM_014009.4(FOXP3):c.454+4A>G rs2147948858

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