ClinVar Miner

List of variants in gene combination FANCA, ZNF276 reported as likely benign for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 291
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.*679del rs375657470 0.04242
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00349
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00188
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00163
NM_000135.4(FANCA):c.*654C>T rs17227438 0.00151
NM_000135.4(FANCA):c.4261-8T>G rs372268907 0.00049
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00040
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=) rs141128234 0.00027
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) rs370507983 0.00025
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_000135.4(FANCA):c.3829-9G>A rs776077648 0.00022
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00020
NM_000135.4(FANCA):c.3912A>G (p.Ala1304=) rs545021222 0.00018
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.3934+74C>G rs56216970 0.00016
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00013
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00010
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828 0.00009
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283 0.00009
NM_000135.4(FANCA):c.3935-6T>C rs368376237 0.00008
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00008
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=) rs17227389 0.00007
NM_000135.4(FANCA):c.3766-14G>A rs34476949 0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) rs144171225 0.00005
NM_000135.4(FANCA):c.3960C>T (p.Leu1320=) rs541385700 0.00004
NM_000135.4(FANCA):c.4084T>C (p.Leu1362=) rs775351812 0.00004
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu) rs760814763 0.00004
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=) rs367630825 0.00004
NM_000135.4(FANCA):c.3924G>A (p.Leu1308=) rs775127240 0.00003
NM_000135.4(FANCA):c.3934+12G>A rs534548445 0.00003
NM_000135.4(FANCA):c.4010+8C>T rs763049986 0.00003
NM_000135.4(FANCA):c.4011-15T>C rs773327440 0.00003
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) rs201886956 0.00003
NM_000135.4(FANCA):c.4038G>A (p.Ala1346=) rs755479861 0.00003
NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser) rs750839091 0.00003
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=) rs368985041 0.00003
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) rs769243354 0.00003
NM_000135.4(FANCA):c.4299C>T (p.Ser1433=) rs568293451 0.00003
NM_000135.4(FANCA):c.4365C>T (p.Phe1455=) rs1440013855 0.00003
NM_000135.4(FANCA):c.3876C>T (p.Leu1292=) rs878934420 0.00002
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala) rs753944130 0.00002
NM_000135.4(FANCA):c.4168-4C>A rs775180524 0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206 0.00002
NM_000135.4(FANCA):c.3766-14_3766-13dup rs770872562 0.00001
NM_000135.4(FANCA):c.3766-18G>A rs759441149 0.00001
NM_000135.4(FANCA):c.3766-22_3766-20del rs915052126 0.00001
NM_000135.4(FANCA):c.3768A>G (p.Leu1256=) rs747616573 0.00001
NM_000135.4(FANCA):c.3802C>T (p.Leu1268=) rs143982249 0.00001
NM_000135.4(FANCA):c.3804G>A (p.Leu1268=) rs1449170388 0.00001
NM_000135.4(FANCA):c.3805C>T (p.Leu1269=) rs757641646 0.00001
NM_000135.4(FANCA):c.3822C>T (p.Thr1274=) rs1382340096 0.00001
NM_000135.4(FANCA):c.3829-10C>T rs374510260 0.00001
NM_000135.4(FANCA):c.3829-16C>G rs766263531 0.00001
NM_000135.4(FANCA):c.3829-7T>C rs2062090818 0.00001
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=) rs768380959 0.00001
NM_000135.4(FANCA):c.3857A>C (p.His1286Pro) rs138620653 0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192 0.00001
NM_000135.4(FANCA):c.3861T>A (p.Val1287=) rs1227504086 0.00001
NM_000135.4(FANCA):c.3870A>G (p.Ala1290=) rs780156842 0.00001
NM_000135.4(FANCA):c.3922T>C (p.Leu1308=) rs1416658548 0.00001
NM_000135.4(FANCA):c.3934+10dup rs755153673 0.00001
NM_000135.4(FANCA):c.3934+11C>T rs553011717 0.00001
NM_000135.4(FANCA):c.3934+9C>T rs201323033 0.00001
NM_000135.4(FANCA):c.3935-4G>A rs1392135704 0.00001
NM_000135.4(FANCA):c.3951G>C (p.Arg1317=) rs1439529670 0.00001
NM_000135.4(FANCA):c.3954C>G (p.Leu1318=) rs187297609 0.00001
NM_000135.4(FANCA):c.3969C>T (p.Ala1323=) rs1337959697 0.00001
NM_000135.4(FANCA):c.3972G>C (p.Pro1324=) rs1446370085 0.00001
NM_000135.4(FANCA):c.4010+14C>T rs1339996571 0.00001
NM_000135.4(FANCA):c.4010+15_4010+20del rs767060427 0.00001
NM_000135.4(FANCA):c.4010+16G>A rs2062067015 0.00001
NM_000135.4(FANCA):c.4011-20C>T rs766594215 0.00001
NM_000135.4(FANCA):c.4011-4C>G rs372364590 0.00001
NM_000135.4(FANCA):c.4011-7C>T rs1463777596 0.00001
NM_000135.4(FANCA):c.4023C>T (p.Tyr1341=) rs201740587 0.00001
NM_000135.4(FANCA):c.4029T>C (p.His1343=) rs745577614 0.00001
NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly) rs778544563 0.00001
NM_000135.4(FANCA):c.4041C>A (p.Ala1347=) rs2062058480 0.00001
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882 0.00001
NM_000135.4(FANCA):c.4128T>C (p.Val1376=) rs1209384219 0.00001
NM_000135.4(FANCA):c.4168-19T>G rs750161523 0.00001
NM_000135.4(FANCA):c.4168-9T>C rs1235253861 0.00001
NM_000135.4(FANCA):c.4183C>T (p.Leu1395=) rs780156946 0.00001
NM_000135.4(FANCA):c.4209G>A (p.Leu1403=) rs755883570 0.00001
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=) rs1379441535 0.00001
NM_000135.4(FANCA):c.4236A>G (p.Lys1412=) rs760945805 0.00001
NM_000135.4(FANCA):c.4251C>T (p.His1417=) rs752333498 0.00001
NM_000135.4(FANCA):c.4254G>C (p.Val1418=) rs200284171 0.00001
NM_000135.4(FANCA):c.4260+16C>T rs772216317 0.00001
NM_000135.4(FANCA):c.4260+19C>A rs1272834434 0.00001
NM_000135.4(FANCA):c.4261-11C>T rs2062032586 0.00001
NM_000135.4(FANCA):c.4261-12C>T rs751989527 0.00001
NM_000135.4(FANCA):c.4261-18C>G rs781731674 0.00001
NM_000135.4(FANCA):c.4261-4A>T rs2062032155 0.00001
NM_000135.4(FANCA):c.4264C>T (p.Leu1422=) rs753660236 0.00001
NM_000135.4(FANCA):c.4308C>T (p.Leu1436=) rs199937973 0.00001
NM_000135.4(FANCA):c.4317A>G (p.Arg1439=) rs2062029843 0.00001
NM_000135.4(FANCA):c.4329C>T (p.Ala1443=) rs371228419 0.00001
NM_000135.4(FANCA):c.4338T>C (p.Ala1446=) rs746256466 0.00001
NM_000135.4(FANCA):c.4342C>T (p.Leu1448=) rs1567590925 0.00001
NM_000135.4(FANCA):c.*672del rs66471129
NM_000135.4(FANCA):c.3766-12T>C rs2544095430
NM_000135.4(FANCA):c.3766-14G>C
NM_000135.4(FANCA):c.3766-15C>G rs749085160
NM_000135.4(FANCA):c.3766-15C>T rs749085160
NM_000135.4(FANCA):c.3766-16A>T rs2544095495
NM_000135.4(FANCA):c.3766-19T>C rs927937594
NM_000135.4(FANCA):c.3766-20G>T rs1363510893
NM_000135.4(FANCA):c.3766-5T>C rs2151716900
NM_000135.4(FANCA):c.3768A>C (p.Leu1256=) rs747616573
NM_000135.4(FANCA):c.3768A>T (p.Leu1256=) rs747616573
NM_000135.4(FANCA):c.3771G>A (p.Leu1257=) rs1402327994
NM_000135.4(FANCA):c.3783C>T (p.Phe1261=) rs2062115689
NM_000135.4(FANCA):c.3786C>T (p.Phe1262=) rs2062115605
NM_000135.4(FANCA):c.3792C>G (p.Ser1264=) rs141128234
NM_000135.4(FANCA):c.3795G>A (p.Leu1265=) rs1010989878
NM_000135.4(FANCA):c.3801C>G (p.Gly1267=) rs143772894
NM_000135.4(FANCA):c.3804G>C (p.Leu1268=) rs1449170388
NM_000135.4(FANCA):c.3807G>A (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3810G>C (p.Ser1270=) rs138144828
NM_000135.4(FANCA):c.3810G>T (p.Ser1270=) rs138144828
NM_000135.4(FANCA):c.3813A>T (p.Ser1271=) rs2544094969
NM_000135.4(FANCA):c.3819G>A (p.Leu1273=) rs2544094912
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=) rs1382340096
NM_000135.4(FANCA):c.3829-13C>G
NM_000135.4(FANCA):c.3829-14C>T rs762916608
NM_000135.4(FANCA):c.3829-4A>T rs2151714907
NM_000135.4(FANCA):c.3829-8G>A rs1272324196
NM_000135.4(FANCA):c.3829-9G>T rs776077648
NM_000135.4(FANCA):c.3834C>T (p.Thr1278=) rs2544088736
NM_000135.4(FANCA):c.3837A>G (p.Thr1279=) rs2151714884
NM_000135.4(FANCA):c.3841C>T (p.Leu1281=) rs2151714870
NM_000135.4(FANCA):c.3846A>C (p.Pro1282=) rs2151714851
NM_000135.4(FANCA):c.3846A>G (p.Pro1282=) rs2151714851
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3855C>T (p.Phe1285=) rs2062090012
NM_000135.4(FANCA):c.3867A>T (p.Ala1289=) rs2544088456
NM_000135.4(FANCA):c.3873C>A (p.Ile1291=) rs2062089414
NM_000135.4(FANCA):c.3888G>A (p.Glu1296=) rs1204611147
NM_000135.4(FANCA):c.3900A>C (p.Ile1300=) rs2151714696
NM_000135.4(FANCA):c.3907C>T (p.Leu1303=) rs2151714673
NM_000135.4(FANCA):c.3909G>A (p.Leu1303=) rs2544088037
NM_000135.4(FANCA):c.3912A>T (p.Ala1304=) rs545021222
NM_000135.4(FANCA):c.3918T>C (p.Phe1306=) rs2151714638
NM_000135.4(FANCA):c.3930G>A (p.Glu1310=) rs2151714594
NM_000135.4(FANCA):c.3934+10_3934+11del rs1491270557
NM_000135.4(FANCA):c.3934+13C>A rs748418564
NM_000135.4(FANCA):c.3934+16_3934+18del rs2544087460
NM_000135.4(FANCA):c.3934+20G>A rs2151714503
NM_000135.4(FANCA):c.3934+7_3934+8del rs2151714552
NM_000135.4(FANCA):c.3934+8A>T rs2544087666
NM_000135.4(FANCA):c.3934+9C>G rs201323033
NM_000135.4(FANCA):c.3935-10G>C rs2062071933
NM_000135.4(FANCA):c.3935-16_3935-15delinsTC rs2151713121
NM_000135.4(FANCA):c.3935-20G>A rs2544083119
NM_000135.4(FANCA):c.3935-7G>A rs2062071481
NM_000135.4(FANCA):c.3935-9G>C rs9282680
NM_000135.4(FANCA):c.3936C>T (p.Asp1312=) rs769653192
NM_000135.4(FANCA):c.3939C>T (p.Leu1313=) rs2544082824
NM_000135.4(FANCA):c.3940A>C (p.Arg1314=) rs2544082803
NM_000135.4(FANCA):c.3945G>A (p.Leu1315=) rs941282193
NM_000135.4(FANCA):c.3945G>C (p.Leu1315=) rs941282193
NM_000135.4(FANCA):c.3948G>A (p.Gly1316=) rs2062070838
NM_000135.4(FANCA):c.3951G>A (p.Arg1317=) rs1439529670
NM_000135.4(FANCA):c.3954C>T (p.Leu1318=) rs187297609
NM_000135.4(FANCA):c.3957C>T (p.Leu1319=) rs1264506681
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) rs755375493
NM_000135.4(FANCA):c.3966G>A (p.Val1322=) rs1274557789
NM_000135.4(FANCA):c.3972G>A (p.Pro1324=) rs1446370085
NM_000135.4(FANCA):c.3981_3982inv (p.Thr1328Ala)
NM_000135.4(FANCA):c.3984C>A (p.Thr1328=) rs917010763
NM_000135.4(FANCA):c.3990G>C (p.Leu1330=) rs1401417399
NM_000135.4(FANCA):c.3996T>A (p.Pro1332=) rs2544082181
NM_000135.4(FANCA):c.4008C>T (p.Tyr1336=) rs1278514199
NM_000135.4(FANCA):c.4010+11C>A rs2544081962
NM_000135.4(FANCA):c.4010+11C>T rs2544081962
NM_000135.4(FANCA):c.4010+12C>T rs1445940471
NM_000135.4(FANCA):c.4010+13A>T rs2544081943
NM_000135.4(FANCA):c.4010+14C>A rs1339996571
NM_000135.4(FANCA):c.4010+14C>G
NM_000135.4(FANCA):c.4010+17G>T rs1318852669
NM_000135.4(FANCA):c.4010+18del rs1349248565
NM_000135.4(FANCA):c.4010+19C>T rs978377623
NM_000135.4(FANCA):c.4010+20T>G rs2151712605
NM_000135.4(FANCA):c.4010+7C>T rs1014447679
NM_000135.4(FANCA):c.4010+9A>C rs1383806921
NM_000135.4(FANCA):c.4010+9A>G rs1383806921
NM_000135.4(FANCA):c.4011-14G>A rs2544080314
NM_000135.4(FANCA):c.4011-16_4011-15del rs2062060996
NM_000135.4(FANCA):c.4011-19A>G rs2151712162
NM_000135.4(FANCA):c.4011-4C>T
NM_000135.4(FANCA):c.4011-6C>T rs2544080252
NM_000135.4(FANCA):c.4011-8A>C rs2544080278
NM_000135.4(FANCA):c.4011-9T>C rs2151712130
NM_000135.4(FANCA):c.4014T>C (p.Leu1338=) rs2151712093
NM_000135.4(FANCA):c.4020C>T (p.Ser1340=) rs2544080139
NM_000135.4(FANCA):c.4026C>T (p.Phe1342=) rs775186188
NM_000135.4(FANCA):c.4038G>T (p.Ala1346=) rs755479861
NM_000135.4(FANCA):c.4041C>T (p.Ala1347=) rs2062058480
NM_000135.4(FANCA):c.4045A>C (p.Arg1349=) rs750543279
NM_000135.4(FANCA):c.4053G>A (p.Glu1351=) rs1477796994
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=) rs2062057880
NM_000135.4(FANCA):c.4060C>T (p.Leu1354=) rs2151711931
NM_000135.4(FANCA):c.4062G>A (p.Leu1354=) rs2062057797
NM_000135.4(FANCA):c.4062G>T (p.Leu1354=) rs2062057797
NM_000135.4(FANCA):c.4065T>C (p.His1355=)
NM_000135.4(FANCA):c.4068T>C (p.Val1356=) rs2544079675
NM_000135.4(FANCA):c.4071T>G (p.Ala1357=) rs764090579
NM_000135.4(FANCA):c.4089G>A (p.Lys1363=)
NM_000135.4(FANCA):c.4098G>A (p.Gln1366=) rs1041491550
NM_000135.4(FANCA):c.4101C>T (p.Leu1367=) rs777315528
NM_000135.4(FANCA):c.4104C>T (p.Phe1368=) rs375237681
NM_000135.4(FANCA):c.4116T>C (p.Asp1372=) rs2544079207
NM_000135.4(FANCA):c.4137A>G (p.Pro1379=) rs1172262659
NM_000135.4(FANCA):c.4144A>C (p.Arg1382=) rs2544078900
NM_000135.4(FANCA):c.4149C>T (p.Ser1383=) rs2151711619
NM_000135.4(FANCA):c.4152G>A (p.Leu1384=) rs2062054135
NM_000135.4(FANCA):c.4155G>A (p.Glu1385=) rs770551622
NM_000135.4(FANCA):c.4158C>G (p.Leu1386=) rs1366841040
NM_000135.4(FANCA):c.4167+11G>C rs2544078432
NM_000135.4(FANCA):c.4167+12G>A rs2151711547
NM_000135.4(FANCA):c.4167+13G>A
NM_000135.4(FANCA):c.4167+15C>T rs2062053171
NM_000135.4(FANCA):c.4167+17G>A rs2544078297
NM_000135.4(FANCA):c.4167+19C>A rs1486160352
NM_000135.4(FANCA):c.4167+20C>A rs1264976469
NM_000135.4(FANCA):c.4167+74del rs375508301
NM_000135.4(FANCA):c.4167+8C>G rs772665586
NM_000135.4(FANCA):c.4167+8dup rs2544078475
NM_000135.4(FANCA):c.4168-10T>C rs2151711012
NM_000135.4(FANCA):c.4168-13G>C rs765136708
NM_000135.4(FANCA):c.4168-14T>C rs2151711032
NM_000135.4(FANCA):c.4168-4C>T rs775180524
NM_000135.4(FANCA):c.4168-5T>C rs2151710982
NM_000135.4(FANCA):c.4168-6C>G rs760223551
NM_000135.4(FANCA):c.4168-6C>T rs760223551
NM_000135.4(FANCA):c.4168-8C>G rs1235913738
NM_000135.4(FANCA):c.4168-8CT[2] rs2062047195
NM_000135.4(FANCA):c.4168-9T>G rs1235253861
NM_000135.4(FANCA):c.4173C>T (p.Asn1391=) rs2151710931
NM_000135.4(FANCA):c.4176C>G (p.Pro1392=) rs776860862
NM_000135.4(FANCA):c.4176C>T (p.Pro1392=) rs776860862
NM_000135.4(FANCA):c.4182A>G (p.Glu1394=) rs2544076466
NM_000135.4(FANCA):c.4200T>A (p.Arg1400=) rs2151710848
NM_000135.4(FANCA):c.4200T>C (p.Arg1400=) rs2151710848
NM_000135.4(FANCA):c.4203T>C (p.Leu1401=)
NM_000135.4(FANCA):c.4239G>A (p.Lys1413=) rs775541226
NM_000135.4(FANCA):c.4242C>T (p.Ser1414=) rs745958661
NM_000135.4(FANCA):c.4245C>T (p.Phe1415=) rs1567591930
NM_000135.4(FANCA):c.4260+13dup rs2544075546
NM_000135.4(FANCA):c.4260+14G>A rs2544075528
NM_000135.4(FANCA):c.4260+20C>T rs1019949093
NM_000135.4(FANCA):c.4260+7T>G rs1325695569
NM_000135.4(FANCA):c.4260+8_4260+31del rs2151710539
NM_000135.4(FANCA):c.4260+9A>G rs2151710610
NM_000135.4(FANCA):c.4261-10T>C rs2151710055
NM_000135.4(FANCA):c.4261-10TC[4] rs746081933
NM_000135.4(FANCA):c.4261-12C>A rs751989527
NM_000135.4(FANCA):c.4261-16T>C rs2544073874
NM_000135.4(FANCA):c.4261-17C>G rs1310748700
NM_000135.4(FANCA):c.4261-18C>T rs781731674
NM_000135.4(FANCA):c.4261-20G>T rs2544073932
NM_000135.4(FANCA):c.4261-4A>C
NM_000135.4(FANCA):c.4261-5C>T rs2151710015
NM_000135.4(FANCA):c.4261-7C>T
NM_000135.4(FANCA):c.4261-8T>C rs372268907
NM_000135.4(FANCA):c.4261-9C>T rs368506826
NM_000135.4(FANCA):c.4266G>T (p.Leu1422=)
NM_000135.4(FANCA):c.4269T>C (p.Ala1423=) rs764113707
NM_000135.4(FANCA):c.4272T>C (p.Asp1424=) rs2151709956
NM_000135.4(FANCA):c.4278G>A (p.Gly1426=) rs2151709922
NM_000135.4(FANCA):c.4281C>T (p.Asp1427=) rs1598048898
NM_000135.4(FANCA):c.4287C>T (p.Asp1429=) rs2151709886
NM_000135.4(FANCA):c.4293G>A (p.Glu1431=) rs1235881790
NM_000135.4(FANCA):c.4296G>A (p.Val1432=) rs2151709848
NM_000135.4(FANCA):c.4296G>T (p.Val1432=) rs2151709848
NM_000135.4(FANCA):c.4311G>A (p.Gln1437=) rs2544073046
NM_000135.4(FANCA):c.4314C>T (p.Ser1438=) rs1176499940
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=) rs1555532716
NM_000135.4(FANCA):c.4335C>T (p.Asp1445=) rs374830555
NM_000135.4(FANCA):c.4341C>T (p.Asp1447=) rs2544072749
NM_000135.4(FANCA):c.4347C>A (p.Ser1449=) rs2151709677
NM_000135.4(FANCA):c.4350G>A (p.Gln1450=) rs749315540
NM_000135.4(FANCA):c.4362C>T (p.Leu1454=) rs2151709620

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