ClinVar Miner

List of variants in gene STAG1 studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_005862.3(STAG1):c.2457C>T (p.Phe819=) rs9860801 0.37660
NM_005862.3(STAG1):c.1402C>T (p.Leu468=) rs34807246 0.00562
NM_005862.3(STAG1):c.1189G>C (p.Val397Leu) rs201846240 0.00004
NM_005862.3(STAG1):c.3104T>C (p.Met1035Thr) rs199902670 0.00004
NM_005862.3(STAG1):c.395-8T>C rs746224826 0.00002
NM_005862.3(STAG1):c.471+4T>G rs1308814193 0.00002
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg) rs1471479119 0.00001
NC_000003.11:g.136254742_136427833del
NM_005862.3(STAG1):c.1056A>T (p.Lys352Asn) rs2107814357
NM_005862.3(STAG1):c.1082G>T (p.Arg361Ile)
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys) rs1559824939
NM_005862.3(STAG1):c.1132A>G (p.Ile378Val)
NM_005862.3(STAG1):c.1353A>T (p.Leu451Phe)
NM_005862.3(STAG1):c.139A>G (p.Asn47Asp)
NM_005862.3(STAG1):c.1433A>C (p.His478Pro) rs1553722309
NM_005862.3(STAG1):c.1442C>A (p.Ala481Glu) rs2088687467
NM_005862.3(STAG1):c.1460_1464dup (p.Trp489fs) rs1553722294
NM_005862.3(STAG1):c.1716dup (p.Ile573fs)
NM_005862.3(STAG1):c.1736dup (p.Ser580fs) rs1553718528
NM_005862.3(STAG1):c.1857G>C (p.Gln619His) rs2107730009
NM_005862.3(STAG1):c.1894G>A (p.Val632Ile) rs766435466
NM_005862.3(STAG1):c.1919A>G (p.Tyr640Cys) rs773332391
NM_005862.3(STAG1):c.1962dup (p.Asp655Ter)
NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs) rs1559791842
NM_005862.3(STAG1):c.2038-5dup
NM_005862.3(STAG1):c.2061C>T (p.Asp687=)
NM_005862.3(STAG1):c.2077T>C (p.Ser693Pro) rs1296664528
NM_005862.3(STAG1):c.2170A>G (p.Ile724Val) rs1576445940
NM_005862.3(STAG1):c.2196+4167T>G rs2107715024
NM_005862.3(STAG1):c.2254A>C (p.Ile752Leu) rs2087239249
NM_005862.3(STAG1):c.2285T>C (p.Leu762Ser) rs1937685841
NM_005862.3(STAG1):c.2306T>C (p.Val769Ala) rs867178690
NM_005862.3(STAG1):c.2334G>T (p.Gln778His)
NM_005862.3(STAG1):c.253G>A (p.Val85Ile) rs1559904167
NM_005862.3(STAG1):c.2547G>C (p.Glu849Asp)
NM_005862.3(STAG1):c.254T>C (p.Val85Ala)
NM_005862.3(STAG1):c.2557dup (p.Glu853fs) rs1560062082
NM_005862.3(STAG1):c.260del (p.Leu87fs) rs1576656734
NM_005862.3(STAG1):c.2647A>T (p.Met883Leu) rs1937096737
NM_005862.3(STAG1):c.284A>G (p.Lys95Arg)
NM_005862.3(STAG1):c.298-8776C>T rs1190662692
NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)
NM_005862.3(STAG1):c.3261del (p.Lys1087fs) rs1553789166
NM_005862.3(STAG1):c.3401A>C (p.Gln1134Pro)
NM_005862.3(STAG1):c.3581C>T (p.Ala1194Val)
NM_005862.3(STAG1):c.3691C>T (p.Arg1231Ter)
NM_005862.3(STAG1):c.391C>T (p.Arg131Ter) rs1937166346
NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)
NM_005862.3(STAG1):c.42_44dup (p.Asn14_Glu15insAsp) rs1939944359
NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer) rs2107905668
NM_005862.3(STAG1):c.625G>C (p.Gly209Arg) rs2107905472
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005862.3(STAG1):c.676+5379A>G rs2107894849

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