ClinVar Miner

List of variants in gene MRE11 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_005591.4(MRE11):c.120C>T (p.Leu40=) rs1805364 0.00066
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761 0.00007
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn) rs368403414 0.00006
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_005591.4(MRE11):c.2049G>A (p.Gly683=) rs758931835 0.00004
NM_005591.4(MRE11):c.534A>G (p.Leu178=) rs374635285 0.00003
NM_005591.4(MRE11):c.1051C>T (p.Arg351Cys) rs757492041 0.00002
NM_005591.4(MRE11):c.1191T>C (p.His397=) rs759856523 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_005591.4(MRE11):c.1259A>C (p.Lys420Thr) rs201153937 0.00001
NM_005591.4(MRE11):c.1476C>T (p.Ala492=) rs370397034 0.00001
NM_005591.4(MRE11):c.2043G>A (p.Ser681=) rs876659873 0.00001
NM_005591.4(MRE11):c.315-2A>G rs876659145 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 0.00001
NM_005591.4(MRE11):c.690A>G (p.Pro230=) rs786203787 0.00001
NM_005591.4(MRE11):c.*660_*663dup
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.4(MRE11):c.1222dup (p.Thr408fs) rs774440500
NM_005591.4(MRE11):c.1343T>C (p.Leu448Pro) rs1946361017
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.4(MRE11):c.1994+2T>A
NM_005591.4(MRE11):c.224G>A (p.Cys75Tyr) rs772423554
NM_005591.4(MRE11):c.235T>C (p.Leu79=) rs745332888
NM_005591.4(MRE11):c.303T>C (p.Phe101=) rs786201176
NM_005591.4(MRE11):c.564G>A (p.Arg188=) rs200213865
NM_005591.4(MRE11):c.807A>C (p.Ser269=) rs1306806501

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