ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia complementation group A by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NC_000003.12:g.(?_10028648)_(10043874_?)del
NC_000003.12:g.(?_10028648)_(10046733_?)del
NC_000003.12:g.(?_10064723)_(10146642_?)del
NC_000009.12:g.(?_95101700)_(95508367_?)del
NC_000015.10:g.(?_89247629)_(89317131_?)del
NC_000016.10:g.(?_3608430)_(3609566_?)del
NC_000016.10:g.(?_89752138)_(89792547_?)del
NC_000016.10:g.(?_89758571)_(89784970_?)del
NC_000016.10:g.(?_89761943)_(89920218_?)del
NC_000016.10:g.(?_89767135)_(89816621_?)del
NC_000016.10:g.(?_89775736)_(89775821_?)del
NC_000016.10:g.(?_89782853)_(89784970_?)del
NC_000016.10:g.(?_89791397)_(89792553_?)del
NC_000016.10:g.(?_89810701)_(89816621_?)del
NC_000016.10:g.(?_89814514)_(89816621_?)del
NC_000016.9:g.(?_89831292)_(89833651_?)del
NM_000135.2(FANCA):c.1074_1075delGT (p.Tyr359Profs) rs878853660
NM_000135.2(FANCA):c.1115_1118delTTGG (p.Val372Alafs) rs397507552
NM_000135.2(FANCA):c.1827-1G>A rs555449842
NM_000135.2(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.2(FANCA):c.238delT (p.Cys80Valfs) rs864622187
NM_000135.2(FANCA):c.2546delC (p.Ser849Phefs) rs1060501876
NM_000135.2(FANCA):c.2730_2731delCT (p.Trp911Aspfs) rs878853663
NM_000135.2(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.2(FANCA):c.283+3A>C rs786204204
NM_000135.2(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.2(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.2(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.2(FANCA):c.3403_3405delTTC (p.Phe1135del) rs786204246
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.2(FANCA):c.416_417delTG (p.Val139Glyfs) rs864622188
NM_000135.2(FANCA):c.709+5G>A rs759877008
NM_000135.2(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.2(FANCA):c.97delG (p.Glu33Lysfs) rs786204238
NM_000135.3(FANCA):c.(?_-1)_522+?del
NM_000135.3(FANCA):c.1809dup (p.Ile604Tyrfs) rs1343140664
NM_000135.3(FANCA):c.1814_1815delAG (p.Glu605Valfs) rs759899153
NM_000135.3(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.3(FANCA):c.2587_2588dup (p.Leu864Alafs)
NM_000135.3(FANCA):c.2839dup (p.Ser947Phefs) rs756367276
NM_000135.3(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.3(FANCA):c.2T>C (p.Met1Thr) rs769479800
NM_000135.3(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.3(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.3(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.3(FANCA):c.3520_3522delTGG (p.Trp1174del) rs1555536446
NM_000135.3(FANCA):c.3558dup (p.Arg1187Glufs) rs747851434
NM_000135.3(FANCA):c.3634dup (p.Ser1212Phefs)
NM_000135.3(FANCA):c.4069_4082del (p.Ala1357Leufs) rs747892390
NM_000135.3(FANCA):c.643_644delTG (p.Cys215Leufs) rs1338138752
NM_000135.3(FANCA):c.916_917delAC (p.Thr306Alafs) rs764122657
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.2(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.2(FANCC):c.1302dupT (p.Gly435Trpfs) rs730881709
NM_000136.2(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.2(FANCC):c.1392_1402delCCAGGACCTGC (p.Gln465Aspfs)
NM_000136.2(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.2(FANCC):c.251-2A>G rs1057517219
NM_000136.2(FANCC):c.29dupG (p.Cys10Trpfs) rs878853671
NM_000136.2(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.2(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.2(FANCC):c.355_360delTCTCATinsA (p.Ser119Asnfs) rs587779904
NM_000136.2(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.2(FANCC):c.389_390delAA (p.Glu130Glyfs)
NM_000136.2(FANCC):c.455dupA (p.Asn152Lysfs) rs774170058
NM_000136.2(FANCC):c.456+4A>T rs104886456
NM_000136.2(FANCC):c.485dupG (p.Glu163Argfs) rs1554842611
NM_000136.2(FANCC):c.487_490delGAGA (p.Glu163Ilefs) rs730881708
NM_000136.2(FANCC):c.489_490delGA (p.Asn164Serfs) rs730881708
NM_000136.2(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.2(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.2(FANCC):c.67delG (p.Asp23Ilefs) rs104886459
NM_000136.2(FANCC):c.997-?_1154+?del
NM_001018115.2(FANCD2):c.553dup (p.Arg185Lysfs) rs1553607671
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.1(FANCI):c.3493delG (p.Asp1165Thrfs) rs758597713
NM_001113378.1(FANCI):c.3623_3624delTG (p.Cys1209Leufs) rs770318990
NM_001113378.1(FANCI):c.3662delA (p.Lys1221Argfs)
NM_001113378.1(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter) rs878854181
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.156dupG (p.Leu53Alafs) rs863224506
NM_004629.1(FANCG):c.1642C>T (p.Arg548Ter)
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_004629.1(FANCG):c.652C>T (p.Gln218Ter)
NM_018062.3(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_018062.3(FANCL):c.40dup (p.Leu14Profs)
NM_018062.3(FANCL):c.426_438delTGCTTCTGGTAGA (p.Asp142Glufs) rs878855046
NM_018062.3(FANCL):c.759_762delTCTT (p.Phe253Leufs) rs1553435610
NM_022725.3(FANCF):c.230_252delTTCCGGGATTAGCGAACTTCCAG (p.Val77Glyfs) rs730880277
NM_032444.3(SLX4):c.2137C>T (p.Arg713Ter) rs760126773
NM_032444.3(SLX4):c.2449del (p.Glu817Asnfs)
NM_032444.3(SLX4):c.3726_3729delGAGC (p.Ser1243Alafs) rs878855162
NM_032444.3(SLX4):c.4862del (p.Leu1621Cysfs)
NM_032444.3(SLX4):c.59del (p.Leu20Argfs) rs1315905872
NM_032444.3(SLX4):c.860delG (p.Ser287Thrfs) rs752720263
NM_033084.4(FANCD2):c.-33-?_1098+?del
NM_033084.4(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785
NM_033084.4(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675

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