List of variants in gene FANCG reported as uncertain significance for anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 277

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HGVS	dbSNP	gnomAD frequency
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)	rs35984312	0.00138
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)	rs145613634	0.00103
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)	rs140534765	0.00051
NM_004629.1(FANCG):c.-488G>A	rs752617227	0.00047
NM_004629.2(FANCG):c.794C>T (p.Ala265Val)	rs764992007	0.00031
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)	rs201422773	0.00028
NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp)	rs201884798	0.00022
NM_004629.2(FANCG):c.-1C>T	rs587777946	0.00014
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)	rs17880082	0.00014
NM_004629.2(FANCG):c.-56G>A	rs967151809	0.00013
NM_004629.2(FANCG):c.1367A>T (p.His456Leu)	rs148808709	0.00013
NM_004629.2(FANCG):c.*250C>T	rs535188841	0.00010
NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln)	rs77152961	0.00010
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)	rs201438531	0.00010
NM_004629.2(FANCG):c.373_375dup (p.Val125dup)	rs750843326	0.00009
NM_004629.2(FANCG):c.421C>T (p.Arg141Cys)	rs201153812	0.00007
NM_004629.2(FANCG):c.-19G>A	rs762155734	0.00006
NM_004629.2(FANCG):c.1297C>T (p.Arg433Trp)	rs183777537	0.00006
NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys)	rs368098479	0.00006
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)	rs17878854	0.00006
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp)	rs574511407	0.00006
NM_004629.2(FANCG):c.968T>C (p.Ile323Thr)	rs752346718	0.00006
NM_004629.2(FANCG):c.55A>G (p.Lys19Glu)	rs186641344	0.00005
NM_004629.2(FANCG):c.704C>T (p.Ala235Val)	rs574975594	0.00005
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys)	rs759314410	0.00005
NM_004629.2(FANCG):c.1510A>C (p.Lys504Gln)	rs1304316655	0.00004
NM_004629.2(FANCG):c.1521G>A (p.Ala507=)	rs373411028	0.00004
NM_004629.2(FANCG):c.293G>A (p.Arg98Gln)	rs372854981	0.00004
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)	rs546023787	0.00004
NM_004629.2(FANCG):c.380G>A (p.Arg127His)	rs780985218	0.00004
NM_004629.2(FANCG):c.422G>A (p.Arg141His)	rs775719850	0.00004
NM_004629.2(FANCG):c.464G>A (p.Arg155His)	rs201099560	0.00004
NM_004629.2(FANCG):c.880G>A (p.Gly294Arg)	rs886063897	0.00004
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg)	rs765722724	0.00004
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala)	rs375757497	0.00003
NM_004629.2(FANCG):c.1298G>A (p.Arg433Gln)	rs748738986	0.00003
NM_004629.2(FANCG):c.1441G>C (p.Glu481Gln)	rs772460728	0.00003
NM_004629.2(FANCG):c.1459A>C (p.Thr487Pro)	rs1414696119	0.00003
NM_004629.2(FANCG):c.1718G>C (p.Arg573Thr)	rs200466062	0.00003
NM_004629.2(FANCG):c.1768C>G (p.Pro590Ala)	rs541868979	0.00003
NM_004629.2(FANCG):c.1805C>A (p.Pro602His)	rs370950631	0.00003
NM_004629.2(FANCG):c.181C>T (p.Pro61Ser)	rs931163229	0.00003
NM_004629.2(FANCG):c.398C>T (p.Pro133Leu)	rs1270561172	0.00003
NM_004629.2(FANCG):c.730G>A (p.Val244Met)	rs746248064	0.00003
NM_004629.2(FANCG):c.934G>A (p.Val312Ile)	rs530535955	0.00003
NM_004629.2(FANCG):c.*141A>G	rs1323568562	0.00002
NM_004629.2(FANCG):c.1155C>T (p.Pro385=)	rs1217203217	0.00002
NM_004629.2(FANCG):c.1292T>G (p.Met431Arg)	rs759285011	0.00002
NM_004629.2(FANCG):c.1346C>T (p.Pro449Leu)	rs757442131	0.00002
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala)	rs750212705	0.00002
NM_004629.2(FANCG):c.458C>G (p.Ala153Gly)	rs200074432	0.00002
NM_004629.2(FANCG):c.635C>T (p.Ala212Val)	rs375754266	0.00002
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn)	rs745833004	0.00002
NM_004629.1(FANCG):c.-491G>A	rs886063901	0.00001
NM_004629.2(FANCG):c.*101A>G	rs751616369	0.00001
NM_004629.2(FANCG):c.-276G>A	rs1445799529	0.00001
NM_004629.2(FANCG):c.-311T>A	rs886063900	0.00001
NM_004629.2(FANCG):c.-348A>G	rs376750755	0.00001
NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys)	rs755919340	0.00001
NM_004629.2(FANCG):c.1077G>A (p.Arg359=)	rs901079231	0.00001
NM_004629.2(FANCG):c.1162C>G (p.Pro388Ala)	rs1356114266	0.00001
NM_004629.2(FANCG):c.1189T>C (p.Phe397Leu)	rs1060501868	0.00001
NM_004629.2(FANCG):c.1222G>A (p.Gly408Ser)	rs371171892	0.00001
NM_004629.2(FANCG):c.1252G>A (p.Glu418Lys)	rs886063896	0.00001
NM_004629.2(FANCG):c.1268G>A (p.Arg423His)	rs757276792	0.00001
NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro)	rs748738986	0.00001
NM_004629.2(FANCG):c.1354G>A (p.Val452Ile)	rs756069860	0.00001
NM_004629.2(FANCG):c.1434-6C>T	rs1404150675	0.00001
NM_004629.2(FANCG):c.1473A>G (p.Lys491=)	rs769921972	0.00001
NM_004629.2(FANCG):c.1492A>C (p.Asn498His)	rs748364103	0.00001
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr)	rs373151602	0.00001
NM_004629.2(FANCG):c.1567G>C (p.Glu523Gln)	rs761993636	0.00001
NM_004629.2(FANCG):c.158T>G (p.Leu53Arg)	rs756388446	0.00001
NM_004629.2(FANCG):c.1595A>G (p.Lys532Arg)	rs1587139402	0.00001
NM_004629.2(FANCG):c.1615C>G (p.Leu539Val)	rs1486862292	0.00001
NM_004629.2(FANCG):c.1626G>C (p.Gln542His)	rs1060501867	0.00001
NM_004629.2(FANCG):c.1652A>C (p.Tyr551Ser)	rs1447816480	0.00001
NM_004629.2(FANCG):c.1662G>A (p.Leu554=)	rs750982155	0.00001
NM_004629.2(FANCG):c.1687C>T (p.Arg563Trp)	rs754258080	0.00001
NM_004629.2(FANCG):c.1688G>A (p.Arg563Gln)	rs1309056736	0.00001
NM_004629.2(FANCG):c.176G>A (p.Gly59Glu)	rs538555981	0.00001
NM_004629.2(FANCG):c.1814G>A (p.Arg605His)	rs751710424	0.00001
NM_004629.2(FANCG):c.314A>G (p.Glu105Gly)	rs769048669	0.00001
NM_004629.2(FANCG):c.338G>A (p.Arg113Lys)	rs778894219	0.00001
NM_004629.2(FANCG):c.463C>T (p.Arg155Cys)	rs200926249	0.00001
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser)	rs749946550	0.00001
NM_004629.2(FANCG):c.634G>A (p.Ala212Thr)	rs775291829	0.00001
NM_004629.2(FANCG):c.646+5G>A	rs1453133047	0.00001
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr)	rs765095688	0.00001
NM_004629.2(FANCG):c.73C>G (p.Arg25Gly)	rs752839554	0.00001
NM_004629.2(FANCG):c.766C>T (p.His256Tyr)	rs753955326	0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)	rs149721361	0.00001
NM_004629.2(FANCG):c.84+9G>T	rs759504806	0.00001
NM_004629.2(FANCG):c.869A>G (p.Tyr290Cys)	rs779840229	0.00001
NM_004629.2(FANCG):c.8G>T (p.Arg3Leu)	rs770674344	0.00001
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile)	rs61757386	0.00001
NM_004629.2(FANCG):c.924+3A>G	rs1338383222	0.00001
NM_004629.2(FANCG):c.933_938dup (p.Val312_Pro313dup)	rs1199832786	0.00001
NM_004629.2(FANCG):c.999C>T (p.Asp333=)	rs762238437	0.00001
NM_004629.1(FANCG):c.520_523delinsC (p.Ser174_Lys175delinsGln)	rs1554670417
NM_004629.2(FANCG):c.*77C>T	rs1829028329
NM_004629.2(FANCG):c.-182del	rs886063899
NM_004629.2(FANCG):c.1002A>T (p.Leu334=)	rs984958735
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)
NM_004629.2(FANCG):c.1017T>A (p.His339Gln)	rs764465471
NM_004629.2(FANCG):c.1019G>A (p.Cys340Tyr)	rs2131055383
NM_004629.2(FANCG):c.1027C>G (p.Gln343Glu)	rs1829085768
NM_004629.2(FANCG):c.1032C>A (p.Ser344Arg)
NM_004629.2(FANCG):c.1045A>T (p.Ile349Leu)
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
NM_004629.2(FANCG):c.1076+3_1076+7del	rs780410457
NM_004629.2(FANCG):c.1076+4A>G	rs1829084813
NM_004629.2(FANCG):c.107C>T (p.Thr36Ile)	rs1587144550
NM_004629.2(FANCG):c.1082G>A (p.Gly361Glu)	rs1276088946
NM_004629.2(FANCG):c.1085A>G (p.Asp362Gly)	rs1829076408
NM_004629.2(FANCG):c.1087G>A (p.Ala363Thr)
NM_004629.2(FANCG):c.10C>G (p.Gln4Glu)	rs1326382443
NM_004629.2(FANCG):c.1100A>C (p.Tyr367Ser)
NM_004629.2(FANCG):c.1113G>A (p.Leu371=)	rs1829075976
NM_004629.2(FANCG):c.1125G>A (p.Leu375=)
NM_004629.2(FANCG):c.1126G>T (p.Asp376Tyr)	rs1587140699
NM_004629.2(FANCG):c.1129A>G (p.Ser377Gly)
NM_004629.2(FANCG):c.1143+4G>A	rs2131054635
NM_004629.2(FANCG):c.1143+5G>C	rs778328620
NM_004629.2(FANCG):c.1144-3C>T
NM_004629.2(FANCG):c.1152A>C (p.Pro384=)	rs1487531031
NM_004629.2(FANCG):c.1153C>A (p.Pro385Thr)	rs1288516919
NM_004629.2(FANCG):c.1153C>G (p.Pro385Ala)	rs1288516919
NM_004629.2(FANCG):c.1155_1163del (p.Ser387_Pro389del)	rs1554670228
NM_004629.2(FANCG):c.1156C>A (p.Pro386Thr)
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)	rs141147618
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)	rs141147618
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	rs757418016
NM_004629.2(FANCG):c.1161_1163dup (p.Pro389_Gly390insPro)
NM_004629.2(FANCG):c.1199C>T (p.Ala400Val)
NM_004629.2(FANCG):c.119A>C (p.Gln40Pro)
NM_004629.2(FANCG):c.1228G>A (p.Ala410Thr)	rs1829068737
NM_004629.2(FANCG):c.123G>C (p.Gln41His)
NM_004629.2(FANCG):c.1277C>G (p.Ser426Cys)
NM_004629.2(FANCG):c.1292T>C (p.Met431Thr)
NM_004629.2(FANCG):c.1345C>T (p.Pro449Ser)	rs1829066600
NM_004629.2(FANCG):c.1377G>A (p.Gln459=)	rs1587140019
NM_004629.2(FANCG):c.1385C>A (p.Ala462Asp)	rs2131053797
NM_004629.2(FANCG):c.1400G>A (p.Gly467Asp)
NM_004629.2(FANCG):c.1403C>T (p.Ala468Val)	rs1829065605
NM_004629.2(FANCG):c.1408A>G (p.Lys470Glu)
NM_004629.2(FANCG):c.1433+5G>T
NM_004629.2(FANCG):c.1437C>G (p.Cys479Trp)	rs904322133
NM_004629.2(FANCG):c.1441G>A (p.Glu481Lys)
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro)	rs1829061760
NM_004629.2(FANCG):c.1460C>T (p.Thr487Ile)	rs2131053434
NM_004629.2(FANCG):c.1462C>T (p.Pro488Ser)
NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln)	rs1018027137
NM_004629.2(FANCG):c.1480+5T>C	rs1554670176
NM_004629.2(FANCG):c.1480+5T>G	rs1554670176
NM_004629.2(FANCG):c.1481G>T (p.Gly494Val)	rs770011456
NM_004629.2(FANCG):c.1495T>G (p.Cys499Gly)
NM_004629.2(FANCG):c.1498G>A (p.Glu500Lys)
NM_004629.2(FANCG):c.1505G>T (p.Gly502Val)
NM_004629.2(FANCG):c.1519G>T (p.Ala507Ser)
NM_004629.2(FANCG):c.1520C>T (p.Ala507Val)
NM_004629.2(FANCG):c.1546G>A (p.Ala516Thr)
NM_004629.2(FANCG):c.1556G>A (p.Ser519Asn)	rs1209146448
NM_004629.2(FANCG):c.1582G>A (p.Gly528Ser)
NM_004629.2(FANCG):c.1586A>G (p.Gln529Arg)
NM_004629.2(FANCG):c.1592C>T (p.Thr531Ile)
NM_004629.2(FANCG):c.161dup (p.His55fs)	rs886063898
NM_004629.2(FANCG):c.1633C>G (p.Pro545Ala)	rs1315654777
NM_004629.2(FANCG):c.1635A>G (p.Pro545=)
NM_004629.2(FANCG):c.1636+1G>A	rs1829054352
NM_004629.2(FANCG):c.1636+5G>A	rs748961871
NM_004629.2(FANCG):c.1636+7_1636+8delinsGA
NM_004629.2(FANCG):c.1642C>G (p.Arg548Gly)
NM_004629.2(FANCG):c.1643G>A (p.Arg548Gln)	rs1587138702
NM_004629.2(FANCG):c.1648A>G (p.Thr550Ala)	rs1255677446
NM_004629.2(FANCG):c.1651T>C (p.Tyr551His)
NM_004629.2(FANCG):c.1657C>T (p.His553Tyr)	rs1251259584
NM_004629.2(FANCG):c.1663C>T (p.Leu555Phe)	rs2131051917
NM_004629.2(FANCG):c.1668G>T (p.Gln556His)	rs1829042320
NM_004629.2(FANCG):c.1689G>C (p.Arg563=)	rs138855718
NM_004629.2(FANCG):c.1708C>T (p.Leu570Phe)
NM_004629.2(FANCG):c.1718G>T (p.Arg573Met)	rs200466062
NM_004629.2(FANCG):c.1727C>T (p.Ala576Val)
NM_004629.2(FANCG):c.1745A>G (p.His582Arg)	rs1196002404
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter)	rs786204205
NM_004629.2(FANCG):c.175+4G>C	rs1060501869
NM_004629.2(FANCG):c.1760+4A>T
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
NM_004629.2(FANCG):c.1774T>C (p.Tyr592His)	rs768325047
NM_004629.2(FANCG):c.1777C>T (p.Leu593=)	rs746613103
NM_004629.2(FANCG):c.1782A>C (p.Glu594Asp)
NM_004629.2(FANCG):c.1785C>G (p.Ser595Arg)
NM_004629.2(FANCG):c.178C>T (p.Leu60Phe)	rs1026058105
NM_004629.2(FANCG):c.1793G>A (p.Ser598Asn)
NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)
NM_004629.2(FANCG):c.179del (p.Leu60fs)	rs1829130643
NM_004629.2(FANCG):c.1804C>T (p.Pro602Ser)
NM_004629.2(FANCG):c.1810G>C (p.Asp604His)
NM_004629.2(FANCG):c.1813C>T (p.Arg605Cys)
NM_004629.2(FANCG):c.1820C>A (p.Ala607Asp)
NM_004629.2(FANCG):c.1825del (p.Glu610fs)
NM_004629.2(FANCG):c.1837C>T (p.Arg613Trp)
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs)	rs532302967
NM_004629.2(FANCG):c.193C>T (p.Pro65Ser)	rs2131059151
NM_004629.2(FANCG):c.244G>A (p.Ala82Thr)
NM_004629.2(FANCG):c.247del (p.Ser83fs)	rs1829129667
NM_004629.2(FANCG):c.263T>G (p.Phe88Cys)
NM_004629.2(FANCG):c.292C>A (p.Arg98=)	rs532525154
NM_004629.2(FANCG):c.293G>T (p.Arg98Leu)	rs372854981
NM_004629.2(FANCG):c.308-12T>G
NM_004629.2(FANCG):c.308-25_308-12del	rs1563987234
NM_004629.2(FANCG):c.322G>A (p.Glu108Lys)
NM_004629.2(FANCG):c.335_352del (p.Pro112_Gly117del)
NM_004629.2(FANCG):c.337A>G (p.Arg113Gly)	rs2131058590
NM_004629.2(FANCG):c.355A>C (p.Arg119=)
NM_004629.2(FANCG):c.403C>A (p.Leu135Met)
NM_004629.2(FANCG):c.410C>G (p.Ser137Cys)	rs1203036492
NM_004629.2(FANCG):c.412G>C (p.Ala138Pro)
NM_004629.2(FANCG):c.420C>A (p.His140Gln)
NM_004629.2(FANCG):c.431G>C (p.Gly144Ala)	rs767880403
NM_004629.2(FANCG):c.443C>T (p.Ala148Val)	rs1829121038
NM_004629.2(FANCG):c.448T>C (p.Trp150Arg)	rs202114813
NM_004629.2(FANCG):c.486A>T (p.Leu162Phe)	rs779677132
NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)
NM_004629.2(FANCG):c.510+5T>C	rs921564097
NM_004629.2(FANCG):c.511-6dup	rs376732298
NM_004629.2(FANCG):c.517G>A (p.Ala173Thr)
NM_004629.2(FANCG):c.525G>C (p.Lys175Asn)
NM_004629.2(FANCG):c.52G>A (p.Glu18Lys)	rs1829144761
NM_004629.2(FANCG):c.542_556del (p.Leu181_Ser185del)
NM_004629.2(FANCG):c.54A>C (p.Glu18Asp)	rs1563987701
NM_004629.2(FANCG):c.560C>A (p.Pro187Gln)
NM_004629.2(FANCG):c.563C>T (p.Ala188Val)
NM_004629.2(FANCG):c.572T>C (p.Leu191Ser)
NM_004629.2(FANCG):c.580C>T (p.Pro194Ser)	rs1554670412
NM_004629.2(FANCG):c.587C>T (p.Thr196Ile)
NM_004629.2(FANCG):c.595G>A (p.Asp199Asn)
NM_004629.2(FANCG):c.616G>A (p.Val206Ile)	rs768648609
NM_004629.2(FANCG):c.626C>T (p.Thr209Ile)	rs1382724792
NM_004629.2(FANCG):c.633T>A (p.Phe211Leu)
NM_004629.2(FANCG):c.63C>A (p.Asp21Glu)
NM_004629.2(FANCG):c.647-3C>T	rs1311964497
NM_004629.2(FANCG):c.64C>T (p.Arg22Trp)
NM_004629.2(FANCG):c.65G>A (p.Arg22Gln)	rs1829144428
NM_004629.2(FANCG):c.662T>A (p.Ile221Asn)	rs1829099355
NM_004629.2(FANCG):c.665C>T (p.Thr222Ile)
NM_004629.2(FANCG):c.690C>A (p.Ser230Arg)	rs1333976481
NM_004629.2(FANCG):c.706G>A (p.Ala236Thr)	rs2131056564
NM_004629.2(FANCG):c.70G>C (p.Val24Leu)
NM_004629.2(FANCG):c.714C>T (p.Gly238=)
NM_004629.2(FANCG):c.725G>A (p.Arg242Gln)
NM_004629.2(FANCG):c.736G>T (p.Val246Phe)
NM_004629.2(FANCG):c.743T>C (p.Val248Ala)	rs1221668009
NM_004629.2(FANCG):c.763T>C (p.Cys255Arg)
NM_004629.2(FANCG):c.764G>A (p.Cys255Tyr)
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)	rs759314410
NM_004629.2(FANCG):c.770G>A (p.Arg257His)	rs372234656
NM_004629.2(FANCG):c.787C>G (p.Gln263Glu)	rs149721361
NM_004629.2(FANCG):c.801G>C (p.Leu267Phe)	rs1482595465
NM_004629.2(FANCG):c.807G>C (p.Leu269Phe)
NM_004629.2(FANCG):c.833C>T (p.Ala278Val)	rs771395169
NM_004629.2(FANCG):c.84+53G>T	rs1563987651
NM_004629.2(FANCG):c.844C>T (p.Pro282Ser)	rs770009374
NM_004629.2(FANCG):c.865C>A (p.Leu289Ile)
NM_004629.2(FANCG):c.889A>G (p.Thr297Ala)
NM_004629.2(FANCG):c.895G>A (p.Glu299Lys)
NM_004629.2(FANCG):c.899del (p.Leu300fs)	rs1829092191
NM_004629.2(FANCG):c.906_907delinsAT (p.Ser302Arg)
NM_004629.2(FANCG):c.910G>C (p.Glu304Gln)
NM_004629.2(FANCG):c.916C>A (p.Leu306Ile)
NM_004629.2(FANCG):c.917T>C (p.Leu306Pro)
NM_004629.2(FANCG):c.920T>G (p.Val307Gly)	rs774982952
NM_004629.2(FANCG):c.955C>A (p.Pro319Thr)
NM_004629.2(FANCG):c.957G>A (p.Pro319=)	rs145092954
NM_004629.2(FANCG):c.965T>G (p.Leu322Arg)
NM_004629.2(FANCG):c.978A>G (p.Glu326=)
Single allele

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