ClinVar Miner

List of variants in gene STAG1 reported as uncertain significance 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: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1056A>T (p.Lys352Asn) rs2107814357
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.1442C>A (p.Ala481Glu) rs2088687467
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.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.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.3401A>C (p.Gln1134Pro)
NM_005862.3(STAG1):c.3581C>T (p.Ala1194Val)
NM_005862.3(STAG1):c.42_44dup (p.Asn14_Glu15insAsp) rs1939944359
NM_005862.3(STAG1):c.676+5379A>G rs2107894849

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.