ClinVar Miner

List of variants reported as uncertain significance for VACTERL/vater association

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_003413.4(ZIC3):c.*260T>C rs41299098 0.00074
NM_003413.4(ZIC3):c.-424C>A rs933941596 0.00032
NM_003413.4(ZIC3):c.*1540G>A rs184855783 0.00026
NM_003413.4(ZIC3):c.*1237A>T rs772508899 0.00024
NM_003413.4(ZIC3):c.-335C>T rs181414932 0.00022
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_003413.4(ZIC3):c.*1362T>G rs775549541 0.00015
NM_001018113.3(FANCB):c.*151A>G rs1480015600 0.00011
NM_001018113.3(FANCB):c.-111A>G rs185118376 0.00009
NM_001018113.3(FANCB):c.-230A>T rs1020271259 0.00008
NM_003413.4(ZIC3):c.-479C>T rs1022475218 0.00007
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00004
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_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.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.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
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.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.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.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_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.*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_016292.3(TRAP1):c.472G>C (p.Asp158His)

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