ClinVar Miner

List of variants in gene STAG2 studied for X-linked disease

Included ClinVar conditions (275):
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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001042750.2(STAG2):c.1417-39A>C rs2297651 0.22776
NM_001042750.2(STAG2):c.45-11T>C rs183562950 0.00106
NM_001042750.2(STAG2):c.1101T>C (p.Phe367=) rs190643141 0.00001
NM_001042750.2(STAG2):c.1412_1416+9del rs2148280047
NM_001042750.2(STAG2):c.1535-3del rs36097834
NM_001042750.2(STAG2):c.1680G>A (p.Arg560=)
NM_001042750.2(STAG2):c.205C>T (p.Arg69Ter) rs1569507848
NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter) rs1317614761
NM_001042750.2(STAG2):c.3222dup (p.Ser1075fs)
NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter) rs2057753419
NM_001042750.2(STAG2):c.867del (p.Phe289fs)

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