List of variants reported as uncertain significance for DNA repair disease by Leiden Open Variation Database

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 114

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)	rs2239359	0.51262
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)	rs7195066	0.46389
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr)	rs9462088	0.14730
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)	rs17232246	0.04972
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)	rs76275444	0.04436
NM_000135.4(FANCA):c.3348+18A>G	rs1800347	0.02828
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg)	rs146040966	0.00016
NM_001113525.2(ZNF276):c.*105C>T	rs557319516	0.00013
NM_000135.4(FANCA):c.2222+8C>T	rs745775730	0.00002
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)	rs777825824	0.00002
NM_000135.4(FANCA):c.1566G>A (p.Lys522=)	rs1276716915	0.00001
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)	rs2039278551	0.00001
NM_000135.4(FANCA):c.3338A>T (p.Asn1113Ile)	rs1204335568	0.00001
NM_000135.4(FANCA):c.793-3C>G	rs749688050	0.00001
NM_001018115.3(FANCD2):c.1278+6T>C	rs779894573	0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe)	rs529893298	0.00001
NM_001018115.3(FANCD2):c.491+1G>A	rs943009372	0.00001
NM_021922.3(FANCE):c.1114-8G>A	rs878854342	0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)	rs730881622	0.00001
NC_000016.10:g.(89738709_89738881)_(89752223_89758576)del
NC_000016.10:g.(89739290_89739477)_(89811072_89814519)del
NC_000016.10:g.(89740100_89740803)_(89816657_?)del
NC_000016.10:g.(89742939_89744958)_(89745072_89746583)del
NC_000016.10:g.(89746891_89748658)_(89770025_89770165)del
NC_000016.10:g.(89746891_89748658)_(89770635_89771677)del
NC_000016.10:g.(89746891_89748658)_(89771815_89773270)del
NC_000016.10:g.(89748768_89749729)_(89765067_89767140)del
NC_000016.10:g.(89749903_89752137)_(89758706_89761948)del
NC_000016.10:g.(89752223_89758576)_(89765067_89767140)del
NC_000016.10:g.(89752223_89758576)_(89775816_89778800)del
NC_000016.10:g.(89752223_89758576)_(89783103_89784853)del
NC_000016.10:g.(89758706_89761948)_(89771815_89773270)del
NC_000016.10:g.(89758706_89761948)_(89784965_89791402)del
NC_000016.10:g.(89758706_89761948)_(89805393_89808293)del
NC_000016.10:g.(89767238_89769836)_(89811072_89814519)del
NC_000016.10:g.(89770025_89770165)_(89779958_89782858)del
NC_000016.10:g.(89770025_89770165)_(89792069_89792470)del
NC_000016.10:g.(89770635_89771677)_(89771815_89773270)del
NC_000016.10:g.(89771815_89773270)_(89778851_89778942)del
NC_000016.10:g.(89771815_89773270)_(89816657_?)del
NC_000016.10:g.(89773385_89775741)_(89799639_89803258)del
NC_000016.10:g.(89775816_89778800)_(89778851_89778942)del
NC_000016.10:g.(89775816_89778800)_(89808368_89810706)del
NC_000016.10:g.(89778851_89778942)_(89779004_89779868)del
NC_000016.10:g.(89779004_89779868)_(89779958_89782858)del
NC_000016.10:g.(89779004_89779868)_(89783103_89784853)del
NC_000016.10:g.(89779004_89779868)_(89799639_89803258)del
NC_000016.10:g.(89779958_89782858)_(89805393_89808293)del
NC_000016.10:g.(89784965_89791402)_(89799639_89803258)del
NC_000016.10:g.(89799233_89799604)_(89799639_89803258)del
NC_000016.10:g.(89799639_89803258)_(89805393_89808293)del
NC_000016.10:g.(89805393_89808293)_(89808368_89810706)del
NC_000016.10:g.(?_89737551)_(89740100_89740803)del
NC_000016.10:g.(?_89737551)_(89758706_89761948)del
NC_000016.10:g.(?_89737551)_(89767238_89769836)del
NC_000016.10:g.(?_89737551)_(89815987_89816536)del
NC_000016.9:g.(89815176_89816137)_(89866047_89869666)del
NC_000016.9:g.89645037_89810099del
NM_000135.4(FANCA):c.1124T>G (p.Leu375Trp)	rs2040093463
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)	rs1416639878
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)	rs1060501879
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)	rs149551759
NM_000135.4(FANCA):c.1471-738_1627-883del
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter)	rs2039774778
NM_000135.4(FANCA):c.1738_1742delinsCCGCCT (p.Val580fs)	rs2039611494
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)	rs759899153
NM_000135.4(FANCA):c.189+2T>A	rs2041094594
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)	rs1555547935
NM_000135.4(FANCA):c.2316+1_2316+3del	rs2039275264
NM_000135.4(FANCA):c.2504+1G>A	rs2039260545
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn)	rs746889340
NM_000135.4(FANCA):c.2602-2A>G	rs1555545592
NM_000135.4(FANCA):c.2872del (p.Ala958fs)	rs2038844082
NM_000135.4(FANCA):c.2989A>T (p.Ser997Cys)	rs2038619848
NM_000135.4(FANCA):c.3043G>A (p.Glu1015Lys)	rs1443921504
NM_000135.4(FANCA):c.3141_3146del (p.Leu1048_Phe1049del)	rs2038519209
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)	rs1433848980
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly)	rs2038474528
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys)	rs1236607168
NM_000135.4(FANCA):c.3397del (p.His1133fs)	rs758917273
NM_000135.4(FANCA):c.3408+1G>A	rs1567601557
NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg)	rs2038401184
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)	rs545772434
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)	rs1185165443
NM_000135.4(FANCA):c.3627-1G>A	rs2062172440
NM_000135.4(FANCA):c.3878del (p.Glu1293fs)	rs2062089336
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)	rs986710868
NM_000135.4(FANCA):c.3934+1G>A	rs2062087795
NM_000135.4(FANCA):c.3934+1_3934+18del	rs2062086999
NM_000135.4(FANCA):c.4010G>A (p.Ser1337Asn)	rs2062067864
NM_000135.4(FANCA):c.4261-2A>G	rs915983602
NM_000135.4(FANCA):c.710-10G>A	rs2040524006
NM_000135.4(FANCA):c.710-2A>G	rs2040523467
NM_000135.4(FANCA):c.732G>C (p.Leu244Phe)	rs2040522671
NM_000135.4(FANCA):c.827-2A>G	rs2040355782
NM_000135.4(FANCA):c.894-3C>G	rs2040234388
NM_000136.2(FANCC):c.-262-4937_-79+3379del
NM_000136.3(FANCC):c.8_9del (p.Gln3fs)	rs1831183107
NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro)	rs1601977531
NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter)	rs1601977510
NM_001018115.3(FANCD2):c.3802T>G (p.Trp1268Gly)	rs1196009515
NM_001113378.2(FANCI):c.1583+142C>T	rs2053631453
NM_004629.2(FANCG):c.1153C>A (p.Pro385Thr)	rs1288516919
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	rs757418016
NM_004629.2(FANCG):c.1636+1G>A	rs1829054352
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter)	rs786204205
NM_004629.2(FANCG):c.179del (p.Leu60fs)	rs1829130643
NM_004629.2(FANCG):c.247del (p.Ser83fs)	rs1829129667
NM_004629.2(FANCG):c.899del (p.Leu300fs)	rs1829092191
NM_021922.3(FANCE):c.1066A>G (p.Ser356Gly)	rs1767439057
NM_021922.3(FANCE):c.1094G>A (p.Arg365Lys)	rs1767440781
NM_021922.3(FANCE):c.551C>A (p.Pro184Gln)	rs373268808
NM_152633.4(FANCB):c.-70-3463_951dup

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