ClinVar Miner

List of variants reported as benign for Fanconi anemia complementation group A by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.1826+15T>C rs1800337 0.51138
NM_001113525.2(ZNF276):c.1574+23del rs17233826 0.48664
NM_002693.3(POLG):c.3643+257T>G rs1061316 0.48343
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_004629.1(FANCG):c.-453_-452insT rs16935545 0.12501
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_021922.3(FANCE):c.*216del rs45584740 0.08934
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_001113525.2(ZNF276):c.1475-191C>T rs16966023 0.04351
NM_001113525.2(ZNF276):c.1574+23T>C rs62704561 0.03426
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917 0.03300
NM_001113525.2(ZNF276):c.*103C>G rs17233797 0.03296
NM_000135.4(FANCA):c.1360-7C>T rs17232616 0.03003
NM_001113525.2(ZNF276):c.1815G>C (p.Glu605Asp) rs17227424 0.02929
NM_001113525.2(ZNF276):c.*68C>T rs17227417 0.02259
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_001113525.2(ZNF276):c.1574+26C>A rs17233812 0.01850
NM_001113525.2(ZNF276):c.1475-216G>A rs17227452 0.01670
NM_001113525.2(ZNF276):c.1574+17A>C rs17233833 0.01627
NM_001113525.2(ZNF276):c.*1316C>T rs9282680 0.01028
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408 0.00601
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00518
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189 0.00509
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696 0.00072
NM_001113525.2(ZNF276):c.*69G>A rs17233804 0.00019
NM_000059.4(BRCA2):c.*839del rs75353978
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001113525.2(ZNF276):c.*201C>T rs1230
NM_002693.3(POLG):c.*49dup rs3087377

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