ClinVar Miner

List of variants in gene STAT1 reported as benign for autoimmune disease

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.1874-8C>T rs2066804 0.22007
NM_007315.4(STAT1):c.63T>C (p.Leu21=) rs2066802 0.06562
NM_007315.4(STAT1):c.634-16C>T rs45479293 0.01475
NM_007315.4(STAT1):c.1097+10C>G rs41488044 0.00594
NM_007315.4(STAT1):c.1314A>G (p.Gln438=) rs138091660 0.00495
NM_007315.4(STAT1):c.2136T>G (p.Val712=) rs35364817 0.00465
NM_007315.4(STAT1):c.2019A>G (p.Lys673=) rs35098579 0.00351
NM_007315.4(STAT1):c.633+6T>A rs45459703 0.00335
NM_007315.4(STAT1):c.463-8G>C rs2066794 0.00329
NM_007315.4(STAT1):c.1155G>A (p.Thr385=) rs41270237 0.00280
NM_007315.4(STAT1):c.1347+8T>G rs16833147 0.00274
NM_007315.4(STAT1):c.990G>A (p.Gln330=) rs41509946 0.00272
NM_007315.4(STAT1):c.1257G>A (p.Thr419=) rs73979321 0.00224
NM_007315.4(STAT1):c.793A>G (p.Ile265Val) rs148775168 0.00223
NM_007315.4(STAT1):c.1098-17A>G rs182094949 0.00140
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_007315.4(STAT1):c.2238+17G>T rs115758905 0.00132
NM_007315.4(STAT1):c.354C>T (p.Asn118=) rs45463799 0.00106
NM_007315.4(STAT1):c.1872C>T (p.Gly624=) rs2230101 0.00070
NM_007315.4(STAT1):c.1127+9C>T rs201370851 0.00066
NM_007315.4(STAT1):c.274-13C>G rs45565836 0.00065
NM_007315.4(STAT1):c.634-13C>T rs200380549 0.00050
NM_007315.4(STAT1):c.1116T>C (p.Asn372=) rs55891000 0.00030
NM_007315.4(STAT1):c.1728-4C>T rs760805208 0.00016
NM_007315.4(STAT1):c.1713T>G (p.Pro571=) rs772114461 0.00003
NM_007315.4(STAT1):c.1038-9dup
NM_007315.4(STAT1):c.1098-5dup rs200288904
NM_007315.4(STAT1):c.1222-9G>T rs551727276

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