ClinVar Miner

List of variants reported as benign for Fanconi anemia by Genome-Nilou Lab

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_000135.4(FANCA):c.1225+151T>C rs6500451 0.97075
NM_000135.4(FANCA):c.2316+67A>G rs7200990 0.97043
NM_004629.2(FANCG):c.511-45A>G rs554098 0.75732
NM_021922.3(FANCE):c.249-35A>G rs7757405 0.74257
NM_018124.4(RFWD3):c.269C>A (p.Thr90Asn) rs8058922 0.72932
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_018124.4(RFWD3):c.1212G>A (p.Thr404=) rs4888262 0.58882
NM_004629.2(FANCG):c.84+77C>A rs504082 0.54871
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_001113525.2(ZNF276):c.*1693A>T rs7195906 0.53795
NM_000135.4(FANCA):c.1226-80T>C rs6500450 0.53395
NM_000135.4(FANCA):c.1084-49G>C rs1800287 0.53385
NM_000135.4(FANCA):c.596+74G>A rs1800285 0.52593
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.2222+107T>C rs886951 0.51679
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.1826+15T>C rs1800337 0.51138
NM_000135.4(FANCA):c.2222+100A>G rs886950 0.51061
NM_000135.4(FANCA):c.1471-119A>T rs12448860 0.50554
NM_000135.4(FANCA):c.1715+82T>C rs1800335 0.50497
NM_000135.4(FANCA):c.1826+99T>A rs7187436 0.50149
NM_000136.3(FANCC):c.1155-38T>C rs4647534 0.48457
NM_001113378.2(FANCI):c.288+37G>A rs16942918 0.47622
NM_014176.4(UBE2T):c.15A>G (p.Ser5=) rs14451 0.47315
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000135.4(FANCA):c.1471-73G>A rs2239360 0.45821
NM_000135.4(FANCA):c.596+143T>G rs11076627 0.45367
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000135.4(FANCA):c.1226-20A>G rs1800330 0.41702
NM_000135.4(FANCA):c.3240-42G>A rs1800345 0.40844
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_001113525.2(ZNF276):c.*1323G>A rs1061646 0.40513
NM_000135.4(FANCA):c.1084-29A>G rs6500452 0.39672
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_000136.3(FANCC):c.521+109A>G rs3737142 0.37815
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_001113378.2(FANCI):c.545+30G>A rs1981624 0.37206
NM_005236.3(ERCC4):c.1905-35T>C rs1799799 0.36580
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_058216.3(RAD51C):c.904+34T>C rs28363318 0.30375
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_018124.4(RFWD3):c.1755-33G>A rs11149759 0.27669
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_001018115.3(FANCD2):c.2976+36T>C rs6805869 0.23353
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_005236.3(ERCC4):c.1905-28G>A rs1799800 0.22729
NM_001018115.3(FANCD2):c.990-38C>G rs9809061 0.22591
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_001018115.3(FANCD2):c.2270-28G>T rs34608006 0.19876
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_004629.2(FANCG):c.646+58C>T rs17885726 0.17456
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_000135.4(FANCA):c.1006+112G>A rs17226075 0.11964
NM_000135.4(FANCA):c.1083+120G>A rs17226159 0.11919
NM_000135.4(FANCA):c.2602-36G>T rs2159116 0.11784
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_001018115.3(FANCD2):c.1413+38A>C rs7615646 0.10867
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_000135.4(FANCA):c.1627-32T>C rs17226337 0.01179
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836 0.00774
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000135.4(FANCA):c.2223-114C>T rs886952
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001113525.2(ZNF276):c.*607A>G rs1800359
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_022725.4(FANCF):c.-10C>T rs3740615

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