ClinVar Miner

List of variants reported as likely pathogenic for DNA repair disease by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_000051.3(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2921+2dup rs1565424654
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.6095+1G>A rs587781584
NM_000051.3(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.3(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) rs748634900
NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) rs876658716
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.3210+2del rs587779886
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000380.3(XPA):c.666dup (p.Val223fs) rs1554701103
NM_002485.4(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.4(NBN):c.1520_1523ATCT[1] (p.Ser509fs) rs1554558449
NM_002485.4(NBN):c.2071-1G>A rs786201965
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.897-2A>T rs864622090
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250

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