ClinVar Miner

List of variants studied for VACTERL/vater association by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_001018113.3(FANCB):c.*14T>C rs2375726
NM_001018113.3(FANCB):c.*151A>G
NM_001018113.3(FANCB):c.*33T>C rs187611308
NM_001018113.3(FANCB):c.*66T>G rs143434225
NM_001018113.3(FANCB):c.-111A>G
NM_001018113.3(FANCB):c.-173G>C rs2188383
NM_001018113.3(FANCB):c.-219G>T
NM_001018113.3(FANCB):c.-229T>G rs149617434
NM_001018113.3(FANCB):c.-230A>T rs1020271259
NM_001018113.3(FANCB):c.-232G>A rs756766337
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668
NM_001018113.3(FANCB):c.1327-10T>C rs2905223
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_003413.4(ZIC3):c.*1171_*1173del rs1057515786
NM_003413.4(ZIC3):c.*1189A>G rs41300285
NM_003413.4(ZIC3):c.*1237A>T rs772508899
NM_003413.4(ZIC3):c.*1362T>G
NM_003413.4(ZIC3):c.*1492T>C
NM_003413.4(ZIC3):c.*153A>G
NM_003413.4(ZIC3):c.*1540G>A rs184855783
NM_003413.4(ZIC3):c.*1581G>A
NM_003413.4(ZIC3):c.*1715A>G rs1057515787
NM_003413.4(ZIC3):c.*2024G>C rs113057036
NM_003413.4(ZIC3):c.*260T>C
NM_003413.4(ZIC3):c.*26T>C
NM_003413.4(ZIC3):c.*41A>G rs12387258
NM_003413.4(ZIC3):c.*489A>G rs183286584
NM_003413.4(ZIC3):c.*750A>G
NM_003413.4(ZIC3):c.*798_*802del rs899320157
NM_003413.4(ZIC3):c.-169A>C
NM_003413.4(ZIC3):c.-335C>T
NM_003413.4(ZIC3):c.-424C>A
NM_003413.4(ZIC3):c.-479C>T rs1022475218
NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu)
NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser) rs78870836
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr)
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)
NM_003413.4(ZIC3):c.906C>T (p.Cys302=) rs779221820

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