ClinVar Miner

List of variants reported as uncertain significance for VACTERL/vater association by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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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_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.196A>C (p.Thr66Pro) rs943801800 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.1265C>T (p.Ser422Phe) rs1057515805 0.00001
NM_001018113.3(FANCB):c.183C>T (p.Ser61=) rs1317100453 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_001018113.3(FANCB):c.-219G>T rs373175926
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) rs2092370985
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.357A>T (p.Glu119Asp) rs970828551
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

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