ClinVar Miner

List of variants in gene FANCG reported as pathogenic for aplastic anemia

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_004629.2(FANCG):c.832dup (p.Ala278fs) rs1290655946 0.00004
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004629.2(FANCG):c.1144-1G>T rs755363896 0.00002
NM_004629.2(FANCG):c.118C>T (p.Gln40Ter) rs776122485 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter) rs779834525 0.00002
NM_004629.2(FANCG):c.175+1G>A rs927868500 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter) rs1209807088 0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) rs149721361 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NC_000009.12:g.(?_35076714)_(35077111_?)del
NC_000009.12:g.35079242del
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1007C>A (p.Ser336Ter) rs2131055405
NM_004629.2(FANCG):c.1008dup (p.Pro337fs) rs1829086026
NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter) rs2131055360
NM_004629.2(FANCG):c.1062C>A (p.Cys354Ter) rs745928033
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1091del (p.Ala364fs)
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter) rs1326382443
NM_004629.2(FANCG):c.1143+5G>A rs778328620
NM_004629.2(FANCG):c.1144-1G>A
NM_004629.2(FANCG):c.1144-1G>C rs755363896
NM_004629.2(FANCG):c.1144-2A>G
NM_004629.2(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.1167_1168del (p.Gly390fs)
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.1216C>T (p.Gln406Ter) rs748730134
NM_004629.2(FANCG):c.1216del (p.Gln406fs) rs758423821
NM_004629.2(FANCG):c.1216dup (p.Gln406fs) rs758423821
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
NM_004629.2(FANCG):c.1246_1247del (p.Leu416fs) rs2131054083
NM_004629.2(FANCG):c.1248_1249del (p.Leu416_Cys417insTer)
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter) rs886063896
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs) rs2131053943
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
NM_004629.2(FANCG):c.1352G>A (p.Trp451Ter)
NM_004629.2(FANCG):c.1428del (p.Phe476fs)
NM_004629.2(FANCG):c.1468G>T (p.Glu490Ter) rs2131053417
NM_004629.2(FANCG):c.1471_1473delinsG (p.Lys491fs)
NM_004629.2(FANCG):c.1472_1473del (p.Lys491fs)
NM_004629.2(FANCG):c.1473del (p.Glu492fs)
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
NM_004629.2(FANCG):c.1483del rs760738460
NM_004629.2(FANCG):c.1497T>A (p.Cys499Ter)
NM_004629.2(FANCG):c.1501C>T (p.Gln501Ter) rs2131053086
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter) rs1829056657
NM_004629.2(FANCG):c.1561G>T (p.Gly521Ter) rs1829055945
NM_004629.2(FANCG):c.1562G>A (p.Gly521Glu) rs1829055917
NM_004629.2(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter) rs1461242610
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer) rs753485145
NM_004629.2(FANCG):c.1585C>T (p.Gln529Ter) rs1157985962
NM_004629.2(FANCG):c.1593del (p.Ala533fs) rs761519737
NM_004629.2(FANCG):c.1603C>T (p.Gln535Ter)
NM_004629.2(FANCG):c.1604dup (p.Asp536fs)
NM_004629.2(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.2(FANCG):c.1636G>C (p.Gly546Arg) rs766086210
NM_004629.2(FANCG):c.1649del (p.Thr550fs) rs1829042768
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter) rs2131051951
NM_004629.2(FANCG):c.1653del (p.His553fs)
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.1749del (p.Asp584fs) rs1829040508
NM_004629.2(FANCG):c.1761-1G>A rs1829035889
NM_004629.2(FANCG):c.1761-1G>C rs1829035889
NM_004629.2(FANCG):c.1763C>T (p.Ser588Phe) rs1420316004
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) rs746392434
NM_004629.2(FANCG):c.179del (p.Leu60fs) rs1829130643
NM_004629.2(FANCG):c.182del (p.Pro61fs)
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.214_217del (p.Thr72fs) rs747660501
NM_004629.2(FANCG):c.21dup (p.Val8fs)
NM_004629.2(FANCG):c.244dup (p.Ala82fs) rs1829129696
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter) rs1829129603
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.307+2del rs1829128546
NM_004629.2(FANCG):c.319_320del (p.Gln107fs)
NM_004629.2(FANCG):c.336del (p.Arg113fs) rs2131058595
NM_004629.2(FANCG):c.346C>T (p.Gln116Ter) rs1829123346
NM_004629.2(FANCG):c.365G>A (p.Trp122Ter) rs2131058553
NM_004629.2(FANCG):c.380_386dup (p.Leu131fs)
NM_004629.2(FANCG):c.395dup (p.Pro133fs) rs2131058481
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004629.2(FANCG):c.560del (p.Pro187fs) rs2131057213
NM_004629.2(FANCG):c.565G>T (p.Glu189Ter) rs1829104194
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) rs755361015
NM_004629.2(FANCG):c.601C>T (p.Gln201Ter)
NM_004629.2(FANCG):c.604G>T (p.Gly202Ter) rs1449918930
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.643C>T (p.Gln215Ter)
NM_004629.2(FANCG):c.646+1G>T rs1028569753
NM_004629.2(FANCG):c.65G>C (p.Arg22Pro) rs1829144428
NM_004629.2(FANCG):c.684del (p.Ala228_Leu229insTer)
NM_004629.2(FANCG):c.689del (p.Ser230fs) rs2131056614
NM_004629.2(FANCG):c.692del (p.Ser231fs)
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
NM_004629.2(FANCG):c.713dup (p.Leu239fs) rs2131056549
NM_004629.2(FANCG):c.76C>T (p.Gln26Ter) rs2131060266
NM_004629.2(FANCG):c.778-1G>C rs767518932
NM_004629.2(FANCG):c.787_788del (p.Gln263fs)
NM_004629.2(FANCG):c.824_825del (p.Glu275fs) rs867467817
NM_004629.2(FANCG):c.825_828del (p.Glu275fs)
NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004629.2(FANCG):c.883dup (p.Asp295fs) rs1829092483
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.2(FANCG):c.910G>T (p.Glu304Ter) rs1829091954
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
NM_004629.2(FANCG):c.925-2A>G rs397507561
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
NM_004629.2(FANCG):c.941del (p.Cys314fs)
NM_004629.2(FANCG):c.981dup (p.Leu328fs) rs2131055463

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