ClinVar Miner

List of variants in gene FANCC studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 461
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.521+109A>G rs3737142 0.37815
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000136.3(FANCC):c.-79+5G>A rs4647350 0.00411
NM_000136.3(FANCC):c.-225C>T rs182633348 0.00262
NM_000136.3(FANCC):c.-29A>C rs4647414 0.00155
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000136.3(FANCC):c.-78-18T>G rs560839822 0.00032
NM_000136.3(FANCC):c.166-7T>C rs369052148 0.00027
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000136.3(FANCC):c.-79+7G>T rs551170090 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000136.3(FANCC):c.355_358del (p.Ser119fs) rs750003253 0.00019
NM_000136.3(FANCC):c.250+16G>A rs371993188 0.00011
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys) rs140992397 0.00007
NM_000136.3(FANCC):c.345+6A>T rs368595927 0.00007
NM_000136.3(FANCC):c.-65C>T rs371725430 0.00006
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905 0.00005
NM_000136.3(FANCC):c.-18C>G rs762660689 0.00004
NM_000136.3(FANCC):c.-246A>G rs1000528763 0.00004
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) rs777111154 0.00004
NM_000136.3(FANCC):c.250+15C>T rs200138313 0.00004
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204 0.00004
NM_000136.3(FANCC):c.457-12T>A rs188659251 0.00004
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr) rs950623649 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000136.3(FANCC):c.9A>T (p.Gln3His) rs769585639 0.00004
NM_000136.3(FANCC):c.111C>T (p.His37=) rs751219956 0.00003
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_000136.3(FANCC):c.146A>G (p.Tyr49Cys) rs761845692 0.00003
NM_000136.3(FANCC):c.165+8del rs1281745385 0.00003
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys) rs375921240 0.00003
NM_000136.3(FANCC):c.338G>C (p.Trp113Ser) rs1064793405 0.00003
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_000136.3(FANCC):c.46A>T (p.Met16Leu) rs1390412870 0.00003
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln) rs755283850 0.00003
NM_000136.3(FANCC):c.-41A>G rs768624552 0.00002
NM_000136.3(FANCC):c.165+17A>G rs1046183823 0.00002
NM_000136.3(FANCC):c.233C>A (p.Pro78His) rs138722298 0.00002
NM_000136.3(FANCC):c.349G>A (p.Val117Ile) rs781167993 0.00002
NM_000136.3(FANCC):c.351A>G (p.Val117=) rs754914546 0.00002
NM_000136.3(FANCC):c.383A>G (p.Asp128Gly) rs555753798 0.00002
NM_000136.3(FANCC):c.457-7T>C rs749994612 0.00002
NM_000136.3(FANCC):c.473C>T (p.Ala158Val) rs776429990 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.-12G>A rs779454514 0.00001
NM_000136.3(FANCC):c.-13C>T rs1057521107 0.00001
NM_000136.3(FANCC):c.-2A>G rs773045474 0.00001
NM_000136.3(FANCC):c.-48G>A rs1283535718 0.00001
NM_000136.3(FANCC):c.-61C>G rs1048489323 0.00001
NM_000136.3(FANCC):c.-64G>C rs1343004289 0.00001
NM_000136.3(FANCC):c.-71G>A rs1296685064 0.00001
NM_000136.3(FANCC):c.-76T>G rs1304078154 0.00001
NM_000136.3(FANCC):c.-79+1G>A rs1228886763 0.00001
NM_000136.3(FANCC):c.-87G>A rs1051113986 0.00001
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser) rs143212932 0.00001
NM_000136.3(FANCC):c.108_109dup (p.His37fs) rs1057517131 0.00001
NM_000136.3(FANCC):c.109C>G (p.His37Asp) rs864622230 0.00001
NM_000136.3(FANCC):c.112G>A (p.Val38Met) rs778951584 0.00001
NM_000136.3(FANCC):c.143T>C (p.Met48Thr) rs1353498563 0.00001
NM_000136.3(FANCC):c.15A>G (p.Ser5=) rs778408360 0.00001
NM_000136.3(FANCC):c.160G>A (p.Glu54Lys) rs1564794487 0.00001
NM_000136.3(FANCC):c.165+10G>A rs767721720 0.00001
NM_000136.3(FANCC):c.165+12A>G rs200547296 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.166-4_166-1dup rs746016938 0.00001
NM_000136.3(FANCC):c.166-5C>T rs753820400 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile) rs149566909 0.00001
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln) rs150174412 0.00001
NM_000136.3(FANCC):c.216A>G (p.Ala72=) rs1057523069 0.00001
NM_000136.3(FANCC):c.238A>G (p.Ile80Val) rs1064793110 0.00001
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr) rs4647419 0.00001
NM_000136.3(FANCC):c.250+18G>A rs751544011 0.00001
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln) rs1060502519 0.00001
NM_000136.3(FANCC):c.271A>G (p.Ile91Val) rs771619614 0.00001
NM_000136.3(FANCC):c.278G>A (p.Cys93Tyr) rs774029807 0.00001
NM_000136.3(FANCC):c.290T>C (p.Leu97Pro) rs1223097554 0.00001
NM_000136.3(FANCC):c.291A>G (p.Leu97=) rs1216348860 0.00001
NM_000136.3(FANCC):c.321A>G (p.Gln107=) rs1441770870 0.00001
NM_000136.3(FANCC):c.327A>G (p.Lys109=) rs1399574459 0.00001
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro) rs777731560 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.345+1G>A rs1175257797 0.00001
NM_000136.3(FANCC):c.345G>A (p.Gln115=) rs1031713372 0.00001
NM_000136.3(FANCC):c.346-12T>C rs769706832 0.00001
NM_000136.3(FANCC):c.346-8T>C rs747950159 0.00001
NM_000136.3(FANCC):c.347G>A (p.Gly116Asp) rs1282106098 0.00001
NM_000136.3(FANCC):c.364C>T (p.Leu122Phe) rs1064796148 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe) rs587779906 0.00001
NM_000136.3(FANCC):c.407A>C (p.Gln136Pro) rs1180924540 0.00001
NM_000136.3(FANCC):c.436_438del (p.Tyr146del) rs761347179 0.00001
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu) rs730881711 0.00001
NM_000136.3(FANCC):c.456+8T>C rs761639538 0.00001
NM_000136.3(FANCC):c.457-9G>A rs762529432 0.00001
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter) rs1831179586 0.00001
NM_000136.3(FANCC):c.468A>G (p.Ser156=) rs148616725 0.00001
NM_000136.3(FANCC):c.46A>G (p.Met16Val) rs1390412870 0.00001
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro) rs372338418 0.00001
NM_000136.3(FANCC):c.474G>A (p.Ala158=) rs768342908 0.00001
NM_000136.3(FANCC):c.476C>T (p.Ser159Phe) rs1588218581 0.00001
NM_000136.3(FANCC):c.501T>C (p.Asn167=) rs1057520284 0.00001
NM_000136.3(FANCC):c.510C>T (p.Asn170=) rs777734585 0.00001
NM_000136.3(FANCC):c.521+10_521+13del rs1372625836 0.00001
NM_000136.3(FANCC):c.521+5G>C rs1301899973 0.00001
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr) rs1165230596 0.00001
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro) rs1415268424 0.00001
FANCC, 250-BP DEL
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000009.11:g.(?_97861619)_(97869538_?)del
NC_000009.11:g.(?_97863979)_(97934439_?)del
NC_000009.11:g.(?_97863989)_(97864152_?)del
NC_000009.11:g.(?_97863989)_(97879692_?)dup
NC_000009.11:g.(?_97863989)_(97934439_?)dup
NC_000009.11:g.(?_97863989)_(98079991_?)dup
NC_000009.11:g.(?_97873735)_(97897794_?)del
NC_000009.11:g.(?_97876901)_(97879682_?)del
NC_000009.11:g.(?_97876901)_(97934439_?)dup
NC_000009.11:g.(?_97887348)_(97887487_?)del
NC_000009.11:g.(?_97897618)_(97912379_?)del
NC_000009.11:g.(?_97912185)_(97912389_?)del
NC_000009.11:g.(?_98002921)_(98011661_?)del
NC_000009.11:g.(?_98002921)_(98079991_?)dup
NC_000009.11:g.(?_98009694)_(98011661_?)del
NC_000009.11:g.(?_98009704)_(98009808_?)del
NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del
NC_000009.12:g.(95240744_95247431)_(95317709_?)del
NC_000009.12:g.(?_95101707)_(95317709_?)del
NC_000009.12:g.(?_95114619)_(95114720_?)del
NC_000009.12:g.(?_95135336)_(95135512_?)del
NC_000009.12:g.(?_95135336)_(95249379_?)del
NC_000009.12:g.(?_95149913)_(95172157_?)del
NC_000009.12:g.(?_95171069)_(95172157_?)dup
NC_000009.12:g.(?_95240639)_(95240753_?)del
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.997-?_1154+?del
NM_000136.3(FANCC):c.-14del rs2136102536
NM_000136.3(FANCC):c.-172G>T rs1057515706
NM_000136.3(FANCC):c.-18C>A rs762660689
NM_000136.3(FANCC):c.-19C>A rs772475410
NM_000136.3(FANCC):c.-19C>T
NM_000136.3(FANCC):c.-21C>G rs1017979233
NM_000136.3(FANCC):c.-21C>T rs1017979233
NM_000136.3(FANCC):c.-33G>A rs2136102765
NM_000136.3(FANCC):c.-34T>C rs2136102771
NM_000136.3(FANCC):c.-36G>A rs1226649340
NM_000136.3(FANCC):c.-44G>A rs2136102852
NM_000136.3(FANCC):c.-49T>C rs2136102893
NM_000136.3(FANCC):c.-52C>T rs2136102913
NM_000136.3(FANCC):c.-59T>C
NM_000136.3(FANCC):c.-62C>G rs1688044477
NM_000136.3(FANCC):c.-65C>G rs371725430
NM_000136.3(FANCC):c.-66C>T rs1057524245
NM_000136.3(FANCC):c.-69G>A rs1588354162
NM_000136.3(FANCC):c.-73A>G rs1831191027
NM_000136.3(FANCC):c.-73A>T rs1831191027
NM_000136.3(FANCC):c.-78-1G>C rs2136103070
NM_000136.3(FANCC):c.-78-2A>G rs587779898
NM_000136.3(FANCC):c.-78-3C>A
NM_000136.3(FANCC):c.-78-5del rs2136103100
NM_000136.3(FANCC):c.-78-9T>C rs2136103120
NM_000136.3(FANCC):c.-79+1del
NM_000136.3(FANCC):c.-79+2dup rs2136457021
NM_000136.3(FANCC):c.-79+6C>T rs2136456999
NM_000136.3(FANCC):c.-79+7G>A rs551170090
NM_000136.3(FANCC):c.-79+7G>C rs551170090
NM_000136.3(FANCC):c.-79+8_-79+18del rs2136456958
NM_000136.3(FANCC):c.-79+98A>G rs1408056644
NM_000136.3(FANCC):c.-8T>C
NM_000136.3(FANCC):c.102C>G (p.Thr34=) rs2136101018
NM_000136.3(FANCC):c.104G>A (p.Cys35Tyr) rs143212932
NM_000136.3(FANCC):c.110A>C (p.His37Pro) rs1564794663
NM_000136.3(FANCC):c.112G>C (p.Val38Leu) rs778951584
NM_000136.3(FANCC):c.117T>G (p.Ala39=)
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.120G>A (p.Gln40=) rs905858585
NM_000136.3(FANCC):c.120G>C (p.Gln40His) rs905858585
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
NM_000136.3(FANCC):c.126G>A (p.Gln42=) rs1831173438
NM_000136.3(FANCC):c.129G>A (p.Glu43=) rs1246204881
NM_000136.3(FANCC):c.129_142del (p.Glu43fs)
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) rs1588353886
NM_000136.3(FANCC):c.131T>C (p.Phe44Ser) rs1588353402
NM_000136.3(FANCC):c.132C>T (p.Phe44=) rs2136100617
NM_000136.3(FANCC):c.133C>T (p.Leu45=) rs1588353394
NM_000136.3(FANCC):c.134T>G (p.Leu45Arg) rs2136100589
NM_000136.3(FANCC):c.135A>G (p.Leu45=)
NM_000136.3(FANCC):c.138G>A (p.Arg46=) rs1057521212
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter) rs1831172189
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr) rs1588353368
NM_000136.3(FANCC):c.140A>G (p.Lys47Arg) rs1588353368
NM_000136.3(FANCC):c.140_143dup (p.Met48fs) rs1831171802
NM_000136.3(FANCC):c.141G>T (p.Lys47Asn)
NM_000136.3(FANCC):c.147T>C (p.Tyr49=) rs1462121358
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu) rs1831182314
NM_000136.3(FANCC):c.156G>A (p.Leu52=) rs1060502518
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe) rs1060502518
NM_000136.3(FANCC):c.15A>T (p.Ser5=)
NM_000136.3(FANCC):c.162G>A (p.Glu54=)
NM_000136.3(FANCC):c.163del (p.Met55fs)
NM_000136.3(FANCC):c.164T>C (p.Met55Thr) rs1060502513
NM_000136.3(FANCC):c.165+11G>C rs1588353233
NM_000136.3(FANCC):c.165+14C>A
NM_000136.3(FANCC):c.165+14C>T
NM_000136.3(FANCC):c.165+15A>G
NM_000136.3(FANCC):c.165+17A>C
NM_000136.3(FANCC):c.165+18A>C
NM_000136.3(FANCC):c.165+18A>G
NM_000136.3(FANCC):c.165+1G>A
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.165+5G>T
NM_000136.3(FANCC):c.165+9T>A rs1326163629
NM_000136.3(FANCC):c.165G>T (p.Met55Ile)
NM_000136.3(FANCC):c.166-10T>C rs2136091541
NM_000136.3(FANCC):c.166-20A>G
NM_000136.3(FANCC):c.166-3C>T rs1554857868
NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT
NM_000136.3(FANCC):c.166-6T>C rs1254372586
NM_000136.3(FANCC):c.166-9C>T rs372507085
NM_000136.3(FANCC):c.166G>T (p.Asp56Tyr)
NM_000136.3(FANCC):c.167A>T (p.Asp56Val) rs759662786
NM_000136.3(FANCC):c.169T>G (p.Ser57Ala)
NM_000136.3(FANCC):c.169del (p.Ser57fs)
NM_000136.3(FANCC):c.16_23del (p.Val6fs)
NM_000136.3(FANCC):c.173A>G (p.Asn58Ser) rs1831061339
NM_000136.3(FANCC):c.177A>T (p.Thr59=)
NM_000136.3(FANCC):c.177_178del (p.Val60fs)
NM_000136.3(FANCC):c.17T>C (p.Val6Ala) rs527289778
NM_000136.3(FANCC):c.17T>G (p.Val6Gly) rs527289778
NM_000136.3(FANCC):c.188G>C (p.Arg63Thr) rs1588350373
NM_000136.3(FANCC):c.189A>T (p.Arg63Ser) rs773388565
NM_000136.3(FANCC):c.197C>T (p.Thr66Ile) rs762234072
NM_000136.3(FANCC):c.201del (p.Ile67fs) rs2136091157
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser) rs777111154
NM_000136.3(FANCC):c.204T>G (p.Gly68=) rs2136091102
NM_000136.3(FANCC):c.207A>G (p.Gln69=) rs1554857834
NM_000136.3(FANCC):c.211T>C (p.Leu71=) rs1159035875
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe) rs2136091002
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.214G>T (p.Ala72Ser) rs567465885
NM_000136.3(FANCC):c.21T>A (p.Asp7Glu)
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.222T>C (p.Ala74=) rs1554857821
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)
NM_000136.3(FANCC):c.226del (p.Trp76fs) rs2136090871
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter) rs1189888124
NM_000136.3(FANCC):c.228G>T (p.Trp76Cys) rs876661132
NM_000136.3(FANCC):c.228del (p.Cys75_Trp76insTer) rs2136090829
NM_000136.3(FANCC):c.232C>G (p.Pro78Ala) rs2136090802
NM_000136.3(FANCC):c.234T>G (p.Pro78=) rs1588350226
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro) rs752249253
NM_000136.3(FANCC):c.240T>C (p.Ile80=) rs1554857813
NM_000136.3(FANCC):c.246A>G (p.Ala82=) rs1554857810
NM_000136.3(FANCC):c.246A>T (p.Ala82=) rs1554857810
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)
NM_000136.3(FANCC):c.250+10A>T rs2136090521
NM_000136.3(FANCC):c.250+1G>A rs2136090597
NM_000136.3(FANCC):c.250+1G>T
NM_000136.3(FANCC):c.250+8T>A
NM_000136.3(FANCC):c.250+9C>A rs1831054662
NM_000136.3(FANCC):c.251-10C>G rs2136049759
NM_000136.3(FANCC):c.251-10C>T rs2136049759
NM_000136.3(FANCC):c.251-12T>G rs1397340091
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.251-2A>G rs1057517219
NM_000136.3(FANCC):c.251-2A>T
NM_000136.3(FANCC):c.251-4G>A
NM_000136.3(FANCC):c.251-5T>C rs2136049740
NM_000136.3(FANCC):c.251-5del
NM_000136.3(FANCC):c.254A>G (p.Glu85Gly)
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter) rs2136049646
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
NM_000136.3(FANCC):c.266T>G (p.Ile89Ser) rs2136049598
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.268C>A (p.Leu90Ile) rs2136049561
NM_000136.3(FANCC):c.273A>G (p.Ile91Met)
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter) rs1830584796
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.279C>T (p.Cys93=) rs770743418
NM_000136.3(FANCC):c.27T>C (p.Ser9=) rs2136101890
NM_000136.3(FANCC):c.282_283del (p.Cys95fs)
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)
NM_000136.3(FANCC):c.287G>T (p.Cys96Phe)
NM_000136.3(FANCC):c.288T>C (p.Cys96=) rs864622349
NM_000136.3(FANCC):c.292A>G (p.Ile98Val)
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr) rs1830583670
NM_000136.3(FANCC):c.293_296del (p.Ile98fs) rs754779102
NM_000136.3(FANCC):c.294T>C (p.Ile98=) rs2136049291
NM_000136.3(FANCC):c.294_297del (p.Asn99fs)
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.2T>C (p.Met1Thr) rs2136102345
NM_000136.3(FANCC):c.303A>G (p.Glu101=)
NM_000136.3(FANCC):c.306A>G (p.Pro102=) rs1830582695
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.30T>C (p.Cys10=)
NM_000136.3(FANCC):c.315T>C (p.Ser105=) rs749048345
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.319_340dup (p.Ile114delinsThrIleLysThrTer) rs2136048818
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter) rs1830581816
NM_000136.3(FANCC):c.323C>G (p.Ser108Ter) rs1830581816
NM_000136.3(FANCC):c.328C>G (p.Leu110Val) rs1554856102
NM_000136.3(FANCC):c.328C>T (p.Leu110Phe)
NM_000136.3(FANCC):c.330T>C (p.Leu110=) rs2136048963
NM_000136.3(FANCC):c.333C>T (p.Asn111=) rs2136048913
NM_000136.3(FANCC):c.336C>T (p.Ser112=) rs1057521125
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
NM_000136.3(FANCC):c.340A>G (p.Ile114Val) rs1830580247
NM_000136.3(FANCC):c.340A>T (p.Ile114Leu) rs1830580247
NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)
NM_000136.3(FANCC):c.345+18G>T rs765413863
NM_000136.3(FANCC):c.345+19C>T
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.345+3A>G
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.345+9G>T rs2136048623
NM_000136.3(FANCC):c.345+9_345+11del rs1693164213
NM_000136.3(FANCC):c.346-10T>C
NM_000136.3(FANCC):c.346-11_346-10del rs863224324
NM_000136.3(FANCC):c.346-12T>A
NM_000136.3(FANCC):c.346-14T>G
NM_000136.3(FANCC):c.346-18del
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>C
NM_000136.3(FANCC):c.346-1G>T rs1484503633
NM_000136.3(FANCC):c.346-3del rs766373744
NM_000136.3(FANCC):c.346-7T>A
NM_000136.3(FANCC):c.346-7T>G rs1588220867
NM_000136.3(FANCC):c.346-9G>C rs2135589079
NM_000136.3(FANCC):c.346G>C (p.Gly116Arg) rs1440493340
NM_000136.3(FANCC):c.349_360del (p.Val117_His120del) rs1825723799
NM_000136.3(FANCC):c.34T>G (p.Tyr12Asp) rs766173332
NM_000136.3(FANCC):c.34_36del (p.Tyr12del) rs1554858333
NM_000136.3(FANCC):c.34del (p.Tyr12fs)
NM_000136.3(FANCC):c.351A>T (p.Val117=) rs754914546
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter) rs1825725461
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter) rs1825725461
NM_000136.3(FANCC):c.354A>G (p.Leu118=)
NM_000136.3(FANCC):c.355T>C (p.Ser119Pro)
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.357_358del (p.His120fs) rs1588220764
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys) rs762884109
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.371C>T (p.Ala124Val) rs374602991
NM_000136.3(FANCC):c.372A>G (p.Ala124=)
NM_000136.3(FANCC):c.374T>C (p.Leu125Pro) rs2135588560
NM_000136.3(FANCC):c.375C>G (p.Leu125=)
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.381del (p.Phe127fs) rs2135588524
NM_000136.3(FANCC):c.387A>G (p.Lys129=)
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
NM_000136.3(FANCC):c.389_390del (p.Glu130fs) rs1564720605
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg) rs199968672
NM_000136.3(FANCC):c.390A>G (p.Glu130=) rs1419677503
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp) rs1419677503
NM_000136.3(FANCC):c.391G>A (p.Val131Ile) rs543546719
NM_000136.3(FANCC):c.396T>A (p.Ala132=) rs1482798473
NM_000136.3(FANCC):c.396T>C (p.Ala132=)
NM_000136.3(FANCC):c.399T>G (p.Leu133=) rs864622764
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.406C>G (p.Gln136Glu)
NM_000136.3(FANCC):c.406C>T (p.Gln136Ter)
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
NM_000136.3(FANCC):c.417G>A (p.Gly139=)
NM_000136.3(FANCC):c.417G>T (p.Gly139=) rs190925189
NM_000136.3(FANCC):c.422C>T (p.Ala141Val) rs2135587894
NM_000136.3(FANCC):c.423A>C (p.Ala141=)
NM_000136.3(FANCC):c.423A>T (p.Ala141=)
NM_000136.3(FANCC):c.424C>G (p.Pro142Ala) rs864622581
NM_000136.3(FANCC):c.425C>A (p.Pro142His) rs1064793605
NM_000136.3(FANCC):c.42T>C (p.Phe14=) rs760653185
NM_000136.3(FANCC):c.430G>T (p.Asp144Tyr) rs2135587786
NM_000136.3(FANCC):c.432T>G (p.Asp144Glu) rs1825715851
NM_000136.3(FANCC):c.433T>C (p.Tyr145His) rs751054264
NM_000136.3(FANCC):c.437A>C (p.Tyr146Ser) rs1564720359
NM_000136.3(FANCC):c.439C>A (p.Pro147Thr) rs1564720334
NM_000136.3(FANCC):c.439C>G (p.Pro147Ala)
NM_000136.3(FANCC):c.445T>C (p.Leu149=) rs2135587533
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter) rs1825714345
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+12A>C
NM_000136.3(FANCC):c.456+16T>G
NM_000136.3(FANCC):c.456+1G>A rs2135587402
NM_000136.3(FANCC):c.456+20C>T rs1057520283
NM_000136.3(FANCC):c.456+6T>C
NM_000136.3(FANCC):c.456+8T>G rs761639538
NM_000136.3(FANCC):c.457-10del rs763416214
NM_000136.3(FANCC):c.457-12T>G rs188659251
NM_000136.3(FANCC):c.457-15G>A
NM_000136.3(FANCC):c.457-16T>A
NM_000136.3(FANCC):c.457-17C>T
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.457-2A>G
NM_000136.3(FANCC):c.457-4A>G
NM_000136.3(FANCC):c.460G>C (p.Val154Leu)
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.463T>C (p.Leu155=) rs2135579789
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter) rs1825652774
NM_000136.3(FANCC):c.467del (p.Ser156fs) rs1825652623
NM_000136.3(FANCC):c.469T>A (p.Leu157Ile) rs1825652301
NM_000136.3(FANCC):c.469T>C (p.Leu157=) rs1825652301
NM_000136.3(FANCC):c.470T>C (p.Leu157Ser) rs200828924
NM_000136.3(FANCC):c.474G>C (p.Ala158=)
NM_000136.3(FANCC):c.477T>C (p.Ser159=)
NM_000136.3(FANCC):c.485G>C (p.Arg162Thr) rs1825650685
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile) rs950623649
NM_000136.3(FANCC):c.494A>G (p.His165Arg)
NM_000136.3(FANCC):c.494_495del (p.His165fs) rs1564719151
NM_000136.3(FANCC):c.495T>C (p.His165=) rs2135578887
NM_000136.3(FANCC):c.498T>A (p.Leu166=)
NM_000136.3(FANCC):c.49_56del (p.Gln17fs)
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser) rs749322338
NM_000136.3(FANCC):c.511A>C (p.Thr171Pro)
NM_000136.3(FANCC):c.511A>G (p.Thr171Ala) rs1554842592
NM_000136.3(FANCC):c.514C>G (p.Gln172Glu) rs769998628
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.516A>G (p.Gln172=) rs748322179
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.51G>A (p.Gln17=) rs2136101629
NM_000136.3(FANCC):c.521+11A>C
NM_000136.3(FANCC):c.521+12A>G
NM_000136.3(FANCC):c.521+14T>G
NM_000136.3(FANCC):c.521+15A>G
NM_000136.3(FANCC):c.521+17A>T
NM_000136.3(FANCC):c.521+20T>G
NM_000136.3(FANCC):c.521+5G>A rs1301899973
NM_000136.3(FANCC):c.521+5del rs2135578132
NM_000136.3(FANCC):c.521+7G>A
NM_000136.3(FANCC):c.53A>C (p.Lys18Thr) rs2136101612
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.60T>C (p.Ser20=) rs2136101529
NM_000136.3(FANCC):c.61G>C (p.Val21Leu) rs772386467
NM_000136.3(FANCC):c.63A>G (p.Val21=) rs1477321622
NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.6T>C (p.Ala2=) rs376084231
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) rs2136101386
NM_000136.3(FANCC):c.76dup (p.Ser26fs)
NM_000136.3(FANCC):c.78C>T (p.Ser26=)
NM_000136.3(FANCC):c.80C>G (p.Thr27Ser) rs1489419613
NM_000136.3(FANCC):c.80C>T (p.Thr27Ile) rs1489419613
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107
NM_000136.3(FANCC):c.90C>A (p.Thr30=) rs756684704
NM_000136.3(FANCC):c.90C>G (p.Thr30=) rs756684704

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