ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as uncertain significance for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 383
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_001018115.3(FANCD2):c.1656+14T>A rs200473919 0.00080
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg) rs141141752 0.00052
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His) rs140452766 0.00048
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
NM_001018115.3(FANCD2):c.1134+8T>G rs373232961 0.00029
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser) rs144332316 0.00026
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met) rs372574627 0.00024
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=) rs560600678 0.00023
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala) rs139025231 0.00019
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=) rs370078641 0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421 0.00016
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val) rs145129959 0.00016
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg) rs375827113 0.00016
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys) rs200971205 0.00016
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val) rs138587722 0.00015
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr) rs146496253 0.00014
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=) rs61751577 0.00014
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=) rs141824395 0.00013
NM_001018115.3(FANCD2):c.2976+6T>C rs201875004 0.00013
NM_001018115.3(FANCD2):c.2765A>G (p.His922Arg) rs1039845680 0.00011
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=) rs200118565 0.00010
NM_001018115.3(FANCD2):c.2348G>A (p.Cys783Tyr) rs763986919 0.00009
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=) rs780547790 0.00009
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala) rs145099733 0.00008
NM_001018115.3(FANCD2):c.672C>T (p.His224=) rs371928644 0.00008
NM_001018115.3(FANCD2):c.1200C>A (p.Asp400Glu) rs755295382 0.00007
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly) rs951763949 0.00006
NM_001018115.3(FANCD2):c.1546-8T>C rs530202330 0.00006
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys) rs143701205 0.00006
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_001018115.3(FANCD2):c.2859+13C>G rs376913349 0.00006
NM_001018115.3(FANCD2):c.356G>A (p.Arg119His) rs566769898 0.00006
NM_001018115.3(FANCD2):c.796G>A (p.Val266Met) rs530125285 0.00006
NM_001018115.3(FANCD2):c.1373A>G (p.Tyr458Cys) rs535519170 0.00005
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val) rs201408009 0.00005
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn) rs534038231 0.00005
NM_001018115.3(FANCD2):c.696-11A>G rs376488313 0.00005
NM_001018115.3(FANCD2):c.836C>T (p.Pro279Leu) rs752880854 0.00005
NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp) rs778865461 0.00005
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218 0.00004
NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met) rs373898927 0.00004
NM_001018115.3(FANCD2):c.1363A>G (p.Ser455Gly) rs112902928 0.00004
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr) rs774801047 0.00004
NM_001018115.3(FANCD2):c.1802A>G (p.Asn601Ser) rs955122662 0.00004
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn) rs145170666 0.00004
NM_001018115.3(FANCD2):c.2309A>G (p.Lys770Arg) rs533245636 0.00004
NM_001018115.3(FANCD2):c.2422A>G (p.Met808Val) rs375415579 0.00004
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr) rs767659342 0.00004
NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile) rs764903036 0.00004
NM_001018115.3(FANCD2):c.2744C>T (p.Ser915Leu) rs181274599 0.00004
NM_001018115.3(FANCD2):c.595C>G (p.Leu199Val) rs756336462 0.00004
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro) rs748724233 0.00004
NM_001018115.3(FANCD2):c.1011C>A (p.Ser337Arg) rs748171507 0.00003
NM_001018115.3(FANCD2):c.1234A>G (p.Ile412Val) rs776482951 0.00003
NM_001018115.3(FANCD2):c.1440T>C (p.His480=) rs375412395 0.00003
NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu) rs750534583 0.00003
NM_001018115.3(FANCD2):c.1545+9T>C rs769459614 0.00003
NM_001018115.3(FANCD2):c.172A>G (p.Ile58Val) rs766098612 0.00003
NM_001018115.3(FANCD2):c.1948-7C>T rs757782326 0.00003
NM_001018115.3(FANCD2):c.2012T>G (p.Val671Gly) rs373337896 0.00003
NM_001018115.3(FANCD2):c.2116C>G (p.Gln706Glu) rs147532349 0.00003
NM_001018115.3(FANCD2):c.2361T>G (p.Phe787Leu) rs765365413 0.00003
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser) rs758718558 0.00003
NM_001018115.3(FANCD2):c.2942C>T (p.Thr981Ile) rs1468736218 0.00003
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638 0.00003
NM_001018115.3(FANCD2):c.571-3C>T rs191386799 0.00003
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val) rs770985541 0.00003
NM_001018115.3(FANCD2):c.865G>A (p.Val289Ile) rs371273577 0.00003
NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val) rs993692917 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val) rs768105189 0.00002
NM_001018115.3(FANCD2):c.1766+3A>G rs758140679 0.00002
NM_001018115.3(FANCD2):c.245C>T (p.Thr82Ile) rs1221930544 0.00002
NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val) rs774299094 0.00002
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys) rs200335298 0.00002
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr) rs751126921 0.00002
NM_001018115.3(FANCD2):c.1132A>G (p.Lys378Glu) rs1171804978 0.00001
NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr) rs148255762 0.00001
NM_001018115.3(FANCD2):c.1250T>C (p.Leu417Pro) rs1369011648 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.1310C>T (p.Ser437Leu) rs1349417700 0.00001
NM_001018115.3(FANCD2):c.1325T>G (p.Leu442Trp) rs1400034764 0.00001
NM_001018115.3(FANCD2):c.1343A>G (p.Gln448Arg) rs777539464 0.00001
NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile) rs780374375 0.00001
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met) rs760246372 0.00001
NM_001018115.3(FANCD2):c.1465G>A (p.Val489Ile) rs761454597 0.00001
NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr) rs1312307141 0.00001
NM_001018115.3(FANCD2):c.1516G>A (p.Ala506Thr) rs767699213 0.00001
NM_001018115.3(FANCD2):c.1519A>G (p.Met507Val) rs376708399 0.00001
NM_001018115.3(FANCD2):c.1589G>A (p.Arg530Gln) rs1249790407 0.00001
NM_001018115.3(FANCD2):c.1699G>A (p.Val567Ile) rs773483393 0.00001
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=) rs1447943740 0.00001
NM_001018115.3(FANCD2):c.1835C>T (p.Ser612Phe) rs760516842 0.00001
NM_001018115.3(FANCD2):c.1864G>A (p.Glu622Lys) rs375951862 0.00001
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys) rs770231582 0.00001
NM_001018115.3(FANCD2):c.1903T>C (p.Phe635Leu) rs1179966779 0.00001
NM_001018115.3(FANCD2):c.1912C>G (p.Leu638Val) rs760324486 0.00001
NM_001018115.3(FANCD2):c.1993G>A (p.Val665Ile) rs774405864 0.00001
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=) rs138189144 0.00001
NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=) rs552206789 0.00001
NM_001018115.3(FANCD2):c.2170T>G (p.Leu724Val) rs201243424 0.00001
NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser) rs911843298 0.00001
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp) rs752621186 0.00001
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln) rs755975980 0.00001
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg) rs2087692676 0.00001
NM_001018115.3(FANCD2):c.2269+3A>G rs1246708998 0.00001
NM_001018115.3(FANCD2):c.2270A>G (p.Asp757Gly) rs779060030 0.00001
NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe) rs1398046806 0.00001
NM_001018115.3(FANCD2):c.2366C>T (p.Thr789Ile) rs1263342232 0.00001
NM_001018115.3(FANCD2):c.2376G>C (p.Trp792Cys) rs752013429 0.00001
NM_001018115.3(FANCD2):c.2420A>T (p.Glu807Val) rs1305213202 0.00001
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn) rs769811062 0.00001
NM_001018115.3(FANCD2):c.251G>A (p.Arg84Lys) rs375506300 0.00001
NM_001018115.3(FANCD2):c.2632A>C (p.Lys878Gln) rs780018258 0.00001
NM_001018115.3(FANCD2):c.2715+20C>G rs199714316 0.00001
NM_001018115.3(FANCD2):c.2730G>T (p.Lys910Asn) rs369241246 0.00001
NM_001018115.3(FANCD2):c.2745_2747del (p.Leu918del) rs1232274352 0.00001
NM_001018115.3(FANCD2):c.2810A>G (p.His937Arg) rs746389067 0.00001
NM_001018115.3(FANCD2):c.2860-6T>A rs772531991 0.00001
NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile) rs1480379325 0.00001
NM_001018115.3(FANCD2):c.2926C>A (p.Leu976Met) rs753809948 0.00001
NM_001018115.3(FANCD2):c.2976+5G>A rs748710535 0.00001
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys) rs772201181 0.00001
NM_001018115.3(FANCD2):c.439-3T>C rs771998947 0.00001
NM_001018115.3(FANCD2):c.461T>C (p.Phe154Ser) rs200668378 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln) rs41291203 0.00001
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=) rs2086806957 0.00001
NM_001018115.3(FANCD2):c.586A>G (p.Ile196Val) rs779216164 0.00001
NM_001018115.3(FANCD2):c.65-3C>T rs1461324891 0.00001
NM_001018115.3(FANCD2):c.704T>C (p.Leu235Pro) rs760574880 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.805A>C (p.Lys269Gln) rs747977469 0.00001
NM_001018115.3(FANCD2):c.812C>T (p.Ser271Leu) rs766821340 0.00001
NM_001018115.3(FANCD2):c.908A>G (p.Glu303Gly) rs367824549 0.00001
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu) rs183778817 0.00001
NM_001018115.3(FANCD2):c.1009A>T (p.Ser337Cys)
NM_001018115.3(FANCD2):c.100A>G (p.Lys34Glu) rs1394658178
NM_001018115.3(FANCD2):c.1016G>A (p.Gly339Asp) rs1575749612
NM_001018115.3(FANCD2):c.1018C>G (p.Gln340Glu)
NM_001018115.3(FANCD2):c.1019A>G (p.Gln340Arg)
NM_001018115.3(FANCD2):c.1033CTC[1] (p.Leu346del) rs1158786668
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro) rs773847165
NM_001018115.3(FANCD2):c.107A>G (p.His36Arg) rs2124970667
NM_001018115.3(FANCD2):c.1088C>G (p.Ala363Gly)
NM_001018115.3(FANCD2):c.1091G>C (p.Trp364Ser) rs2086921184
NM_001018115.3(FANCD2):c.1098+4A>G rs664233
NM_001018115.3(FANCD2):c.1136T>C (p.Val379Ala) rs1006403887
NM_001018115.3(FANCD2):c.1178C>G (p.Thr393Ser) rs765339192
NM_001018115.3(FANCD2):c.118G>A (p.Glu40Lys) rs2086637443
NM_001018115.3(FANCD2):c.1207C>G (p.Leu403Val) rs753223864
NM_001018115.3(FANCD2):c.1223G>A (p.Arg408Gln) rs370522983
NM_001018115.3(FANCD2):c.1223G>T (p.Arg408Leu)
NM_001018115.3(FANCD2):c.1232G>T (p.Cys411Phe) rs886057663
NM_001018115.3(FANCD2):c.125A>G (p.Glu42Gly)
NM_001018115.3(FANCD2):c.1278+2dup rs1553608861
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
NM_001018115.3(FANCD2):c.1279-3A>T rs1354341272
NM_001018115.3(FANCD2):c.1279G>A (p.Val427Ile) rs529893298
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly) rs2087075324
NM_001018115.3(FANCD2):c.1349T>C (p.Ile450Thr) rs549790164
NM_001018115.3(FANCD2):c.1349T>G (p.Ile450Arg) rs549790164
NM_001018115.3(FANCD2):c.139A>G (p.Ile47Val)
NM_001018115.3(FANCD2):c.1413+2T>A rs1459222478
NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val) rs2087129096
NM_001018115.3(FANCD2):c.1447A>C (p.Ser483Arg) rs2087129366
NM_001018115.3(FANCD2):c.146T>G (p.Val49Gly) rs780343756
NM_001018115.3(FANCD2):c.1487T>G (p.Leu496Arg) rs2125006396
NM_001018115.3(FANCD2):c.1547G>T (p.Gly516Val)
NM_001018115.3(FANCD2):c.1549A>G (p.Ile517Val) rs2087243822
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr) rs1221998060
NM_001018115.3(FANCD2):c.1555G>A (p.Asp519Asn) rs780491203
NM_001018115.3(FANCD2):c.1555G>C (p.Asp519His)
NM_001018115.3(FANCD2):c.1557T>G (p.Asp519Glu)
NM_001018115.3(FANCD2):c.1573T>G (p.Ser525Ala)
NM_001018115.3(FANCD2):c.1576C>T (p.Pro526Ser)
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=) rs2087245604
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe) rs143701205
NM_001018115.3(FANCD2):c.1604T>C (p.Val535Ala) rs2125011965
NM_001018115.3(FANCD2):c.1615C>A (p.Leu539Met)
NM_001018115.3(FANCD2):c.1618G>T (p.Ala540Ser) rs765324038
NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)
NM_001018115.3(FANCD2):c.1650C>G (p.His550Gln)
NM_001018115.3(FANCD2):c.1657-5T>G rs2125026589
NM_001018115.3(FANCD2):c.1663A>G (p.Met555Val)
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg) rs1232065920
NM_001018115.3(FANCD2):c.1717A>G (p.Ile573Val)
NM_001018115.3(FANCD2):c.1727T>C (p.Ile576Thr)
NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)
NM_001018115.3(FANCD2):c.1732G>A (p.Ala578Thr) rs2087530880
NM_001018115.3(FANCD2):c.1753A>G (p.Met585Val)
NM_001018115.3(FANCD2):c.1759G>A (p.Ala587Thr) rs1553610798
NM_001018115.3(FANCD2):c.1766+4C>G
NM_001018115.3(FANCD2):c.1766+4C>T
NM_001018115.3(FANCD2):c.1796G>A (p.Arg599Lys) rs1575787379
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile) rs955122662
NM_001018115.3(FANCD2):c.1807A>C (p.Ser603Arg)
NM_001018115.3(FANCD2):c.1837TTG[3] (p.Leu614_Gln615insLeu)
NM_001018115.3(FANCD2):c.1874C>T (p.Pro625Leu) rs886057690
NM_001018115.3(FANCD2):c.187G>A (p.Glu63Lys)
NM_001018115.3(FANCD2):c.1910A>G (p.Asn637Ser)
NM_001018115.3(FANCD2):c.1922A>G (p.His641Arg) rs750353000
NM_001018115.3(FANCD2):c.1947+3A>G
NM_001018115.3(FANCD2):c.1947+6G>A
NM_001018115.3(FANCD2):c.1947G>A (p.Leu649=) rs753041155
NM_001018115.3(FANCD2):c.1947G>C (p.Leu649=) rs753041155
NM_001018115.3(FANCD2):c.1954G>A (p.Val652Ile) rs1381447946
NM_001018115.3(FANCD2):c.1954G>C (p.Val652Leu) rs1381447946
NM_001018115.3(FANCD2):c.1996G>A (p.Val666Met)
NM_001018115.3(FANCD2):c.2003C>T (p.Ser668Phe)
NM_001018115.3(FANCD2):c.2006G>C (p.Cys669Ser)
NM_001018115.3(FANCD2):c.2014C>A (p.Pro672Thr)
NM_001018115.3(FANCD2):c.2015C>T (p.Pro672Leu) rs754258198
NM_001018115.3(FANCD2):c.2019A>T (p.Glu673Asp) rs2125034174
NM_001018115.3(FANCD2):c.2020G>A (p.Gly674Ser)
NM_001018115.3(FANCD2):c.2021+5G>A rs1243372102
NM_001018115.3(FANCD2):c.2022-5C>A
NM_001018115.3(FANCD2):c.2023G>C (p.Asp675His)
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu) rs2087667280
NM_001018115.3(FANCD2):c.2048T>G (p.Leu683Arg)
NM_001018115.3(FANCD2):c.205+4_205+6del
NM_001018115.3(FANCD2):c.2057T>C (p.Leu686Pro)
NM_001018115.3(FANCD2):c.2077G>T (p.Asp693Tyr) rs2125035150
NM_001018115.3(FANCD2):c.2083A>C (p.Ile695Leu) rs2125035169
NM_001018115.3(FANCD2):c.2087C>T (p.Ala696Val) rs2087669561
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del) rs869312805
NM_001018115.3(FANCD2):c.2102C>T (p.Pro701Leu)
NM_001018115.3(FANCD2):c.2135G>A (p.Gly712Glu)
NM_001018115.3(FANCD2):c.2153A>T (p.Gln718Leu)
NM_001018115.3(FANCD2):c.2168+5G>C rs1237529867
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr) rs1168778380
NM_001018115.3(FANCD2):c.2178T>C (p.Ser726=) rs761465333
NM_001018115.3(FANCD2):c.219A>G (p.Ile73Met) rs2124974577
NM_001018115.3(FANCD2):c.2215C>A (p.Leu739Ile)
NM_001018115.3(FANCD2):c.2218T>C (p.Cys740Arg) rs368885711
NM_001018115.3(FANCD2):c.2219G>T (p.Cys740Phe)
NM_001018115.3(FANCD2):c.221C>T (p.Ala74Val)
NM_001018115.3(FANCD2):c.2221G>A (p.Val741Met)
NM_001018115.3(FANCD2):c.2224G>A (p.Glu742Lys)
NM_001018115.3(FANCD2):c.2246T>G (p.Leu749Trp) rs1426222284
NM_001018115.3(FANCD2):c.2251G>A (p.Glu751Lys) rs1559389326
NM_001018115.3(FANCD2):c.2252A>C (p.Glu751Ala)
NM_001018115.3(FANCD2):c.2255T>C (p.Ile752Thr)
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu) rs758628578
NM_001018115.3(FANCD2):c.2284C>G (p.Leu762Val)
NM_001018115.3(FANCD2):c.2295G>A (p.Leu765=)
NM_001018115.3(FANCD2):c.2300C>T (p.Pro767Leu) rs2087705679
NM_001018115.3(FANCD2):c.2320A>G (p.Met774Val)
NM_001018115.3(FANCD2):c.2321T>C (p.Met774Thr)
NM_001018115.3(FANCD2):c.2336G>A (p.Arg779His) rs377083479
NM_001018115.3(FANCD2):c.2344A>G (p.Met782Val) rs779740652
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
NM_001018115.3(FANCD2):c.2358A>G (p.Ile786Met) rs2087707764
NM_001018115.3(FANCD2):c.2381G>A (p.Arg794Gln)
NM_001018115.3(FANCD2):c.2385+6C>T
NM_001018115.3(FANCD2):c.2386-5T>C
NM_001018115.3(FANCD2):c.2386A>C (p.Ile796Leu)
NM_001018115.3(FANCD2):c.2387T>C (p.Ile796Thr)
NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp) rs1193547837
NM_001018115.3(FANCD2):c.2422A>T (p.Met808Leu) rs375415579
NM_001018115.3(FANCD2):c.2446T>G (p.Leu816Val) rs2125039040
NM_001018115.3(FANCD2):c.2451G>C (p.Lys817Asn)
NM_001018115.3(FANCD2):c.2484G>C (p.Lys828Asn)
NM_001018115.3(FANCD2):c.2488T>G (p.Leu830Val)
NM_001018115.3(FANCD2):c.2495-3C>A rs2125047914
NM_001018115.3(FANCD2):c.2507A>G (p.Tyr836Cys)
NM_001018115.3(FANCD2):c.2555C>T (p.Pro852Leu) rs375827113
NM_001018115.3(FANCD2):c.2564_2569del (p.Val855_Thr856del) rs1693335762
NM_001018115.3(FANCD2):c.2581A>G (p.Lys861Glu) rs886057691
NM_001018115.3(FANCD2):c.2584A>C (p.Ile862Leu)
NM_001018115.3(FANCD2):c.2593A>C (p.Lys865Gln)
NM_001018115.3(FANCD2):c.259C>G (p.Pro87Ala)
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2606-9A>G
NM_001018115.3(FANCD2):c.2609G>T (p.Arg870Met)
NM_001018115.3(FANCD2):c.2610G>C (p.Arg870Ser)
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2621C>G (p.Thr874Arg)
NM_001018115.3(FANCD2):c.2631C>G (p.Ser877Arg)
NM_001018115.3(FANCD2):c.2683C>T (p.Pro895Ser) rs1693355244
NM_001018115.3(FANCD2):c.2687C>T (p.Thr896Met)
NM_001018115.3(FANCD2):c.2693C>G (p.Ser898Cys) rs1693356065
NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)
NM_001018115.3(FANCD2):c.2705A>G (p.Gln902Arg) rs766865689
NM_001018115.3(FANCD2):c.271A>G (p.Lys91Glu)
NM_001018115.3(FANCD2):c.2725G>A (p.Gly909Arg)
NM_001018115.3(FANCD2):c.2728A>G (p.Lys910Glu) rs1693428697
NM_001018115.3(FANCD2):c.2732A>G (p.Glu911Gly)
NM_001018115.3(FANCD2):c.2741CAT[1] (p.Ser915del)
NM_001018115.3(FANCD2):c.2753T>C (p.Leu918Pro)
NM_001018115.3(FANCD2):c.2777G>A (p.Arg926Gln)
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu) rs532250395
NM_001018115.3(FANCD2):c.278T>C (p.Ile93Thr)
NM_001018115.3(FANCD2):c.279A>G (p.Ile93Met) rs1559370542
NM_001018115.3(FANCD2):c.2803A>G (p.Ile935Val) rs61751578
NM_001018115.3(FANCD2):c.2816G>C (p.Gly939Ala)
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_001018115.3(FANCD2):c.2833A>G (p.Ile945Val) rs1365150085
NM_001018115.3(FANCD2):c.285A>C (p.Glu95Asp)
NM_001018115.3(FANCD2):c.2860G>T (p.Ala954Ser)
NM_001018115.3(FANCD2):c.2867_2869del (p.Glu956del) rs1693630743
NM_001018115.3(FANCD2):c.2869G>C (p.Val957Leu) rs762683227
NM_001018115.3(FANCD2):c.2882G>A (p.Gly961Glu)
NM_001018115.3(FANCD2):c.2908G>C (p.Glu970Gln)
NM_001018115.3(FANCD2):c.2932A>T (p.Ser978Cys)
NM_001018115.3(FANCD2):c.2933G>A (p.Ser978Asn)
NM_001018115.3(FANCD2):c.2937G>A (p.Met979Ile) rs779245007
NM_001018115.3(FANCD2):c.2944C>T (p.Pro982Ser) rs1051740558
NM_001018115.3(FANCD2):c.2947C>T (p.Pro983Ser)
NM_001018115.3(FANCD2):c.2959A>G (p.Arg987Gly)
NM_001018115.3(FANCD2):c.2971C>G (p.Leu991Val) rs1575817874
NM_001018115.3(FANCD2):c.2971C>T (p.Leu991Phe)
NM_001018115.3(FANCD2):c.334A>C (p.Asn112His) rs2086689020
NM_001018115.3(FANCD2):c.350G>C (p.Cys117Ser)
NM_001018115.3(FANCD2):c.356G>C (p.Arg119Pro)
NM_001018115.3(FANCD2):c.365A>C (p.Asp122Ala)
NM_001018115.3(FANCD2):c.377+6G>A
NM_001018115.3(FANCD2):c.378-3C>T rs74923817
NM_001018115.3(FANCD2):c.383G>A (p.Gly128Asp) rs760551106
NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)
NM_001018115.3(FANCD2):c.455C>A (p.Thr152Asn) rs150444770
NM_001018115.3(FANCD2):c.461T>G (p.Phe154Cys)
NM_001018115.3(FANCD2):c.473C>G (p.Pro158Arg) rs2124978557
NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)
NM_001018115.3(FANCD2):c.486T>G (p.Phe162Leu) rs2086730814
NM_001018115.3(FANCD2):c.503A>G (p.Asp168Gly)
NM_001018115.3(FANCD2):c.527T>C (p.Ile176Thr)
NM_001018115.3(FANCD2):c.531C>G (p.Val177=) rs747006885
NM_001018115.3(FANCD2):c.550G>T (p.Asp184Tyr) rs2086806903
NM_001018115.3(FANCD2):c.551A>C (p.Asp184Ala)
NM_001018115.3(FANCD2):c.571-3C>G rs191386799
NM_001018115.3(FANCD2):c.571G>A (p.Asp191Asn) rs1257501671
NM_001018115.3(FANCD2):c.604A>G (p.Ile202Val) rs2124985132
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro) rs769402896
NM_001018115.3(FANCD2):c.634A>G (p.Ile212Val) rs2124985240
NM_001018115.3(FANCD2):c.667C>G (p.Gln223Glu) rs1307143430
NM_001018115.3(FANCD2):c.673G>A (p.Ala225Thr)
NM_001018115.3(FANCD2):c.695+5A>G
NM_001018115.3(FANCD2):c.695+6_695+11del rs2124985470
NM_001018115.3(FANCD2):c.696T>C (p.Ser232=)
NM_001018115.3(FANCD2):c.70A>G (p.Arg24Gly) rs999832070
NM_001018115.3(FANCD2):c.733A>G (p.Ile245Val)
NM_001018115.3(FANCD2):c.745C>T (p.Leu249Phe)
NM_001018115.3(FANCD2):c.74A>G (p.Lys25Arg)
NM_001018115.3(FANCD2):c.758G>A (p.Arg253Gln)
NM_001018115.3(FANCD2):c.769A>G (p.Asn257Asp)
NM_001018115.3(FANCD2):c.77A>C (p.Gln26Pro)
NM_001018115.3(FANCD2):c.783+6A>G
NM_001018115.3(FANCD2):c.784-3T>G rs2086891718
NM_001018115.3(FANCD2):c.784G>A (p.Val262Ile)
NM_001018115.3(FANCD2):c.787C>T (p.Arg263Cys)
NM_001018115.3(FANCD2):c.788G>A (p.Arg263His)
NM_001018115.3(FANCD2):c.796_798del (p.Val266del)
NM_001018115.3(FANCD2):c.799A>T (p.Met267Leu)
NM_001018115.3(FANCD2):c.803A>G (p.Asp268Gly)
NM_001018115.3(FANCD2):c.807G>C (p.Lys269Asn)
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del) rs748327074
NM_001018115.3(FANCD2):c.853A>G (p.Ile285Val) rs2124991389
NM_001018115.3(FANCD2):c.875T>G (p.Met292Arg)
NM_001018115.3(FANCD2):c.888+3A>G
NM_001018115.3(FANCD2):c.888G>A (p.Glu296=)
NM_001018115.3(FANCD2):c.905G>A (p.Arg302Gln) rs755797932
NM_001018115.3(FANCD2):c.905G>C (p.Arg302Pro) rs755797932
NM_001018115.3(FANCD2):c.919C>G (p.Leu307Val) rs1486958347
NM_001018115.3(FANCD2):c.923A>G (p.Gln308Arg)
NM_001018115.3(FANCD2):c.929G>T (p.Cys310Phe) rs1251711461
NM_001018115.3(FANCD2):c.944G>A (p.Arg315Gln)
NM_001018115.3(FANCD2):c.950A>G (p.Gln317Arg)
NM_001018115.3(FANCD2):c.952G>A (p.Ala318Thr)
NM_001018115.3(FANCD2):c.95C>T (p.Thr32Ile)
NM_001018115.3(FANCD2):c.962T>G (p.Val321Gly)
NM_001018115.3(FANCD2):c.973A>C (p.Ser325Arg) rs2124992404
NM_001018115.3(FANCD2):c.978A>C (p.Lys326Asn) rs200193941
NM_001018115.3(FANCD2):c.989+3A>G

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