ClinVar Miner

List of variants reported as uncertain significance for Glucocorticoid deficiency with achalasia by Illumina Laboratory Services, Illumina

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_015665.6(AAAS):c.-130C>T rs149864679 0.00832
NM_015665.6(AAAS):c.679T>C (p.Leu227=) rs80027466 0.00392
NM_015665.6(AAAS):c.-73G>A rs561616104 0.00252
NM_015665.6(AAAS):c.1249+8G>A rs200834285 0.00155
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln) rs112579822 0.00039
NM_015665.6(AAAS):c.63C>G (p.His21Gln) rs200408293 0.00030
NM_015665.6(AAAS):c.1416+8C>T rs370325323 0.00027
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr) rs200871966 0.00019
NM_015665.6(AAAS):c.996+12C>T rs200312077 0.00019
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe) rs368094339 0.00014
NM_015665.6(AAAS):c.843C>G (p.Pro281=) rs145196232 0.00009
NM_015665.6(AAAS):c.308T>C (p.Val103Ala) rs201692749 0.00008
NM_015665.6(AAAS):c.333C>T (p.Ser111=) rs146770218 0.00007
NM_015665.6(AAAS):c.939C>T (p.Val313=) rs79881935 0.00007
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp) rs886049649 0.00004
NM_015665.6(AAAS):c.307+13C>T rs761242924 0.00003
NM_015665.6(AAAS):c.362C>T (p.Ala121Val) rs201451157 0.00003
NM_015665.6(AAAS):c.667G>C (p.Asp223His) rs141013947 0.00003
NM_015665.6(AAAS):c.819T>C (p.Asp273=) rs149487112 0.00003
NM_015665.6(AAAS):c.894C>T (p.Asp298=) rs199636211 0.00003
NM_015665.6(AAAS):c.663C>G (p.Thr221=) rs886049650 0.00002
NM_015665.6(AAAS):c.808C>T (p.Arg270Trp) rs779681475 0.00002
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro) rs886049652 0.00001
NM_015665.6(AAAS):c.1229G>A (p.Arg410His) rs768786904 0.00001
NM_015665.6(AAAS):c.124-4A>G rs886049651 0.00001
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter) rs751369041 0.00001
NM_015665.6(AAAS):c.1417-14T>G rs748004231 0.00001
NM_015665.6(AAAS):c.981A>G (p.Leu327=) rs1174765635 0.00001
NM_015665.6(AAAS):c.988C>T (p.Arg330Cys) rs560069464 0.00001
NM_015665.6(AAAS):c.-84G>A rs886049653
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val) rs764298213
NM_015665.6(AAAS):c.1566C>T (p.Ser522=) rs886049648
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe) rs886049647
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu) rs749899811
NM_015665.6(AAAS):c.259G>T (p.Val87Leu) rs766985003
NM_015665.6(AAAS):c.327G>A (p.Thr109=) rs190876509
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser) rs774899476
NM_015665.6(AAAS):c.912T>G (p.Ala304=) rs138749872
NM_015665.6(AAAS):c.936-2A>G rs1565777639
NM_015665.6(AAAS):c.936-5C>T rs1944343648

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