ClinVar Miner

List of variants studied for Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.1713T>G (p.Pro571=) rs772114461 0.00003
NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp)
NM_007315.4(STAT1):c.1151G>A (p.Gly384Asp) rs796065052
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1165G>C (p.Val389Leu) rs1574648928
NM_007315.4(STAT1):c.1210T>G (p.Phe404Val)
NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg) rs1347113886
NM_007315.4(STAT1):c.1398C>G (p.Ser466Arg)
NM_007315.4(STAT1):c.1738G>A (p.Gly580Ser)
NM_007315.4(STAT1):c.1894G>C (p.Glu632Gln)
NM_007315.4(STAT1):c.2174C>T (p.Pro725Leu) rs1691783002
NM_007315.4(STAT1):c.493G>C (p.Asp165His) rs387906767
NM_007315.4(STAT1):c.494A>G (p.Asp165Gly) rs387906764
NM_007315.4(STAT1):c.500A>C (p.Gln167Pro)
NM_007315.4(STAT1):c.501A>C (p.Gln167His)
NM_007315.4(STAT1):c.508T>A (p.Tyr170Asn) rs387906766
NM_007315.4(STAT1):c.511G>C (p.Asp171His)
NM_007315.4(STAT1):c.520T>C (p.Cys174Arg) rs387906763
NM_007315.4(STAT1):c.536_538del (p.Asn179del) rs2125074976
NM_007315.4(STAT1):c.537C>A (p.Asn179Lys) rs587777628
NM_007315.4(STAT1):c.604A>G (p.Met202Val) rs387906762
NM_007315.4(STAT1):c.606G>A (p.Met202Ile) rs1559019204
NM_007315.4(STAT1):c.776T>C (p.Leu259Pro) rs2125069735
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.812A>C (p.Gln271Pro) rs387906768
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
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.832A>G (p.Lys278Glu) rs863223398
NM_007315.4(STAT1):c.854A>G (p.Gln285Arg) rs587777629
NM_007315.4(STAT1):c.857A>T (p.Lys286Ile) rs387906761
NM_007315.4(STAT1):c.862A>G (p.Thr288Ala) rs387906765
NM_007315.4(STAT1):c.970T>C (p.Cys324Arg) rs1574653439
NM_181078.3(IL21R):c.563del (p.Leu188fs) rs2087444941

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