ClinVar Miner

List of variants in gene STAT2 reported as benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005419.4(STAT2):c.1257+6A>G rs2020854 0.20872
NM_005419.4(STAT2):c.1390A>G (p.Ile464Val) rs2066811 0.06495
NM_005419.4(STAT2):c.1782G>C (p.Met594Ile) rs2066807 0.04622
NM_005419.4(STAT2):c.379T>C (p.Leu127=) rs2066812 0.01614
NM_005419.4(STAT2):c.2472T>C (p.Ala824=) rs61754171 0.01516
NM_005419.4(STAT2):c.2478G>T (p.Gln826His) rs2229363 0.00804
NM_005419.4(STAT2):c.1343C>T (p.Thr448Met) rs2066815 0.00654
NM_005419.4(STAT2):c.759C>T (p.His253=) rs147605088 0.00169
NM_005419.4(STAT2):c.165G>A (p.Lys55=) rs199622368 0.00001
NM_005419.4(STAT2):c.1095-19dup
NM_005419.4(STAT2):c.1326G>A (p.Leu442=) rs529406351
NM_005419.4(STAT2):c.2472_2473delinsCT (p.Gly825Cys) rs1555169006
NM_005419.4(STAT2):c.285+11C>A rs138679917
NM_005419.4(STAT2):c.382-9dup rs774277532
NM_005419.4(STAT2):c.472-18G>A

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