ClinVar Miner

List of variants reported as uncertain significance for DNA repair disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.290T>C (p.Ile97Thr) rs786203011
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001113378.1(FANCI):c.1743A>C (p.Glu581Asp) rs779310267
NM_001113378.1(FANCI):c.557T>C (p.Leu186Pro) rs1370113722
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005591.3(MRE11):c.59A>G (p.Asp20Gly) rs1565242083
NM_006892.4(DNMT3B):c.1490+8C>G rs746731138
NM_018062.3(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.3(FANCL):c.548_550TAA[1] (p.Ile184del)
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr) rs1374316194
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) rs1302525912
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071

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