ClinVar Miner

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

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001111.5(ADAR):c.2079+8G>A rs376867928 0.00139
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059 0.00135
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634 0.00063
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055 0.00042
NM_001111.5(ADAR):c.2052G>A (p.Ala684=) rs148041309 0.00039
NM_001111.5(ADAR):c.1934+8C>T rs376025865 0.00013
NM_001111.5(ADAR):c.2274C>T (p.Phe758=) rs149039619 0.00011
NM_001111.5(ADAR):c.222G>A (p.Arg74=) rs150423721 0.00010
NM_001111.5(ADAR):c.1392T>C (p.Asn464=) rs370763473 0.00009
NM_001111.5(ADAR):c.1192A>G (p.Asn398Asp) rs371050239 0.00006
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.1875A>G (p.Lys625=) rs771871176 0.00006
NM_001111.5(ADAR):c.3171G>A (p.Leu1057=) rs149496690 0.00006
NM_001111.5(ADAR):c.57C>T (p.Gly19=) rs137983302 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.1158C>T (p.Asn386=) rs752276168 0.00001
NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr) rs1190740301 0.00001
NM_001111.5(ADAR):c.30C>T (p.Ser10=) rs769752403 0.00001
NM_001111.5(ADAR):c.474A>C (p.Ala158=) rs1434133622 0.00001
NM_001111.5(ADAR):c.1304C>T (p.Pro435Leu)
NM_001111.5(ADAR):c.1491dup (p.Glu498fs) rs1697846493
NM_001111.5(ADAR):c.1601+1G>T
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.1832del (p.Ser611fs) rs1697611007
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.2262C>T (p.His754=)
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3124C>T (p.Arg1042Cys) rs779004315
NM_001111.5(ADAR):c.3348del (p.Arg1116fs)
NM_001111.5(ADAR):c.386A>G (p.His129Arg)

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