ClinVar Miner

List of variants studied for ataxia-telangiectasia-like disorder 1 by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 17
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NM_005591.3(MRE11):c.1045C>T (p.Arg349Trp) rs570102851
NM_005591.3(MRE11):c.1145G>C (p.Ser382Thr) rs745769023
NM_005591.3(MRE11):c.1163G>A (p.Arg388Gln) rs587780134
NM_005591.3(MRE11):c.1318G>T (p.Ala440Ser) rs773469981
NM_005591.3(MRE11):c.1334A>G (p.Gln445Arg) rs371730091
NM_005591.3(MRE11):c.1420G>A (p.Val474Met) rs778781414
NM_005591.3(MRE11):c.1478T>G (p.Leu493Arg) rs786203158
NM_005591.3(MRE11):c.1499A>T (p.Glu500Val) rs786203159
NM_005591.3(MRE11):c.1504C>T (p.Arg502Cys) rs186333183
NM_005591.3(MRE11):c.1667A>G (p.Asn556Ser) rs144896235
NM_005591.3(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.3(MRE11):c.2099C>G (p.Thr700Ser) rs374685908
NM_005591.3(MRE11):c.274G>A (p.Glu92Lys) rs587780139
NM_005591.3(MRE11):c.529G>A (p.Ala177Thr) rs142996063
NM_005591.3(MRE11):c.640T>C (p.Phe214Leu) rs750929369
NM_005591.3(MRE11):c.818C>G (p.Ser273Cys) rs143400546
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016

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