List of variants in gene STAT1 reported as pathogenic for digestive system disorder

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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: 37

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HGVS	dbSNP	gnomAD frequency
NM_007315.4(STAT1):c.1011_1012del (p.Val339fs)	rs768767763	0.00001
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.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.1165G>C (p.Val389Leu)	rs1574648928
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.1398C>G (p.Ser466Arg)
NM_007315.4(STAT1):c.1999_2000del (p.Leu667fs)	rs2125000306
NM_007315.4(STAT1):c.200A>C (p.Gln67Pro)
NM_007315.4(STAT1):c.25C>T (p.Gln9Ter)
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.508T>A (p.Tyr170Asn)	rs387906766
NM_007315.4(STAT1):c.520T>C (p.Cys174Arg)	rs387906763
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.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.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.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)

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