ClinVar Miner

List of variants reported as benign for EAST syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002241.5(KCNJ10):c.*2040C>G rs2486254 0.99734
NM_002241.5(KCNJ10):c.*2062T>G rs1053074 0.45911
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_002241.5(KCNJ10):c.*1032G>A rs17375748 0.04538
NM_002241.5(KCNJ10):c.*413G>A rs79238495 0.02238
NM_002241.5(KCNJ10):c.*1430C>T rs114242410 0.02236
NM_002241.5(KCNJ10):c.*3250G>C rs74855057 0.01694
NM_002241.5(KCNJ10):c.*1498T>G rs75316108 0.01585
NM_002241.5(KCNJ10):c.*93C>T rs114052043 0.01296
NM_002241.5(KCNJ10):c.*2242T>C rs115120891 0.00948
NM_002241.5(KCNJ10):c.*1368C>T rs73021683 0.00847
NM_002241.5(KCNJ10):c.*2148A>G rs75282171 0.00118
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339 0.00113
NM_002241.5(KCNJ10):c.*3506C>T rs79012831 0.00052
NM_002241.5(KCNJ10):c.-43G>A rs372841245 0.00004
NM_002241.5(KCNJ10):c.*1027C>T rs12067668
NM_002241.5(KCNJ10):c.*1764T>G rs2486253
NM_002241.5(KCNJ10):c.*1813C>A rs78280261
NM_002241.5(KCNJ10):c.*2394T>C rs116235450
NM_002241.5(KCNJ10):c.*89C>T rs115130978

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