ClinVar Miner

List of variants reported as benign for Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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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.*1399A>G rs11305 0.04115
NM_007315.4(STAT1):c.*942A>G rs41363648 0.01740
NM_007315.4(STAT1):c.*154T>C rs41481847 0.01141
NM_007315.4(STAT1):c.*535C>T rs41476445 0.00990
NM_007315.4(STAT1):c.1097+10C>G rs41488044 0.00594
NM_007315.3(STAT1):c.-328C>T rs45502197 0.00555
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.-213C>T rs147950001 0.00420
NM_007315.4(STAT1):c.633+6T>A rs45459703 0.00335
NM_007315.4(STAT1):c.*777A>G rs180904823 0.00321
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.796G>A (p.Val266Ile) rs41473544 0.00251
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_007315.4(STAT1):c.-140G>C rs118149197 0.00122
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.1263+7G>A rs56228116 0.00056
NM_007315.4(STAT1):c.1727+12C>T rs201733976 0.00053
NM_007315.4(STAT1):c.634-13C>T rs200380549 0.00050
NM_007315.4(STAT1):c.722G>A (p.Arg241Gln) rs146273341 0.00042
NM_007315.4(STAT1):c.-298C>T rs531009254 0.00035
NM_007315.4(STAT1):c.1116T>C (p.Asn372=) rs55891000 0.00030
NM_007315.4(STAT1):c.1127+10G>A rs140665796 0.00030
NM_007315.4(STAT1):c.825G>A (p.Gln275=) rs61756197 0.00025
NM_007315.4(STAT1):c.1632+6G>A rs185216067 0.00014
NM_007315.4(STAT1):c.*364G>C rs186032149 0.00013
NM_007315.4(STAT1):c.*661T>C rs45449693 0.00008
NM_007315.4(STAT1):c.*1002T>C rs562081130 0.00007
NM_007315.4(STAT1):c.1090T>C (p.Phe364Leu) rs759722579 0.00006
NM_007315.4(STAT1):c.1727+13G>A rs377146580 0.00004
NM_007315.4(STAT1):c.*1060A>C rs570854463 0.00001
NM_007315.4(STAT1):c.-189C>G rs45470392
NM_007315.4(STAT1):c.1222-9G>T rs551727276

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