ClinVar Miner

List of variants in gene ADAR reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.2079+8G>A rs376867928 0.00139
NM_001111.5(ADAR):c.1741T>C (p.Ser581Pro) rs142884797 0.00006
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg) rs373667326 0.00006
NM_001111.5(ADAR):c.983G>A (p.Arg328Gln) rs371476324 0.00006
NM_001111.5(ADAR):c.3354C>T (p.Ser1118=) rs764381126 0.00004
NM_001111.5(ADAR):c.1304C>T (p.Pro435Leu)
NM_001111.5(ADAR):c.1630C>A (p.Arg544=) rs768943773
NM_001111.5(ADAR):c.1696A>T (p.Met566Leu) rs777616553
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.220A>G (p.Arg74Gly) rs1571112467
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys) rs886045345
NM_001111.5(ADAR):c.386A>G (p.His129Arg)

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