ClinVar Miner

List of variants studied for VACTERL/vater association

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001018113.3(FANCB):c.-173G>C rs2188383 0.63320
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_001018113.3(FANCB):c.*14T>C rs2375726 0.02466
NM_001018113.3(FANCB):c.-229T>G rs149617434 0.00830
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963 0.00650
NM_001018113.3(FANCB):c.*66T>G rs143434225 0.00525
NM_003413.4(ZIC3):c.*1189A>G rs41300285 0.00393
NM_003413.4(ZIC3):c.*41A>G rs12387258 0.00328
NM_003413.4(ZIC3):c.*489A>G rs183286584 0.00266
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr) rs140823819 0.00113
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_003413.4(ZIC3):c.*260T>C rs41299098 0.00074
NM_001018113.3(FANCB):c.*33T>C rs187611308 0.00068
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444 0.00053
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533 0.00047
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218 0.00038
NM_003413.4(ZIC3):c.-424C>A rs933941596 0.00032
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396 0.00031
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00029
NM_003413.4(ZIC3):c.*1540G>A rs184855783 0.00026
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_003413.4(ZIC3):c.*1237A>T rs772508899 0.00024
NM_003413.4(ZIC3):c.*26T>C rs370928726 0.00024
NM_003413.4(ZIC3):c.-335C>T rs181414932 0.00022
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00019
NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser) rs78870836 0.00018
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882 0.00015
NM_003413.4(ZIC3):c.*1362T>G rs775549541 0.00015
NM_001018113.3(FANCB):c.*151A>G rs1480015600 0.00011
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_001018113.3(FANCB):c.-111A>G rs185118376 0.00009
NM_001018113.3(FANCB):c.-232G>A rs756766337 0.00009
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784 0.00009
NM_001018113.3(FANCB):c.-230A>T rs1020271259 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018113.3(FANCB):c.362G>A (p.Arg121His) rs142289802 0.00008
NM_003413.4(ZIC3):c.-479C>T rs1022475218 0.00007
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00004
NM_003413.4(ZIC3):c.906C>T (p.Cys302=) rs779221820 0.00004
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918 0.00003
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) rs377058108 0.00003
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro) rs943801800 0.00002
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761 0.00002
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_003413.4(ZIC3):c.*1581G>A rs1308496629 0.00002
NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu) rs1302645424 0.00002
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) rs764156696 0.00001
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln) rs753030842 0.00001
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805 0.00001
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668 0.00001
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser) rs773313492 0.00001
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp) rs773221142 0.00001
NM_001018113.3(FANCB):c.183C>T (p.Ser61=) rs1317100453 0.00001
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270 0.00001
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) rs747819351 0.00001
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu) rs374217132 0.00001
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe) rs757610875 0.00001
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val) rs754238911 0.00001
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808 0.00001
NM_003413.4(ZIC3):c.*153A>G rs1931418607 0.00001
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser) rs1034877221 0.00001
GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3
GRCh37/hg19 10q25.1(chr10:107722094-109081424)x3
GRCh37/hg19 12q23.1(chr12:100367541-100489446)x1
GRCh37/hg19 13q14.11(chr13:43505151-43762719)x3
GRCh37/hg19 13q31.3(chr13:93377562-93606814)x1
GRCh37/hg19 13q32.3-33.1(chr13:101605129-101748121)x1
GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1
GRCh37/hg19 16q23.3(chr16:83414018-83518410)x1
GRCh37/hg19 17p13.3(chr17:1007540-1254875)x3
GRCh37/hg19 17q12(chr17:34815551-36208392)x1
GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3
GRCh37/hg19 1q44(chr1:245900039-246475061)x1
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1
GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3
GRCh37/hg19 4q13.3(chr4:75720151-75883784)x1
GRCh37/hg19 5q22.1(chr5:111241351-111390356)x1
GRCh37/hg19 5q23.1(chr5:118890915-119082631)x1
GRCh37/hg19 7p21.2(chr7:15424383-15534832)x3
GRCh37/hg19 7q35(chr7:147516080-147803861)x1
GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1
NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del) rs587776824
NM_001018113.3(FANCB):c.-219G>T rs373175926
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly) rs2147425036
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys) rs993307430
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) rs2147391126
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) rs2092370985
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro) rs144764663
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) rs2092368698
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) rs2092363086
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) rs2147386189
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) rs2147447239
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) rs2092462570
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) rs2092461325
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys) rs752504125
NM_003413.4(ZIC3):c.*1171_*1173del rs1057515786
NM_003413.4(ZIC3):c.*1492T>C rs1931437482
NM_003413.4(ZIC3):c.*1715A>G rs1057515787
NM_003413.4(ZIC3):c.*2024G>C rs113057036
NM_003413.4(ZIC3):c.*750A>G rs1931426956
NM_003413.4(ZIC3):c.*798_*802del rs899320157
NM_003413.4(ZIC3):c.-169A>C rs1931342053
NM_003413.4(ZIC3):c.1010A>G (p.Lys337Arg) rs1931371643
NM_003413.4(ZIC3):c.1103del (p.Arg368fs) rs2124185586
NM_003413.4(ZIC3):c.163GCC[3] (p.Ala54_Ala55dup) rs398122850
NM_016292.3(TRAP1):c.472G>C (p.Asp158His)
NM_018062.4(FANCL):c.268del (p.Leu90fs) rs869320684
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.