ClinVar Miner

List of variants in gene STAG2 studied for Inborn genetic diseases

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001042750.2(STAG2):c.1732-3C>T rs187736231 0.00037
NM_001042750.2(STAG2):c.2000G>A (p.Arg667Gln)
NM_001042750.2(STAG2):c.2051C>G (p.Ala684Gly)
NM_001042750.2(STAG2):c.2097-13_2097-5del
NM_001042750.2(STAG2):c.2549A>T (p.Asp850Val)
NM_001042750.2(STAG2):c.2584A>G (p.Arg862Gly) rs1556553319
NM_001042750.2(STAG2):c.2924+2_2924+11del rs2058961860
NM_001042750.2(STAG2):c.3278-4C>G
NM_001042750.2(STAG2):c.3337C>T (p.Pro1113Ser) rs1556571924
NM_001042750.2(STAG2):c.3784-18CT[5] rs752096694
NM_001042750.2(STAG2):c.631C>G (p.Gln211Glu) rs2057841126
NM_001042750.2(STAG2):c.884A>G (p.His295Arg) rs2057961508
NM_001042750.2(STAG2):c.98A>G (p.Lys33Arg)

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