ClinVar Miner

List of variants reported as benign for VACTERL with hydrocephalus

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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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.*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.607G>A (p.Ala203Thr) rs140823819 0.00113
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
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.2452A>G (p.Arg818Gly) rs143131218 0.00038
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.*26T>C rs370928726 0.00024
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882 0.00015
NM_001018113.3(FANCB):c.362G>A (p.Arg121His) rs142289802 0.00008
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
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_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668 0.00001
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270 0.00001
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_003413.4(ZIC3):c.*2024G>C rs113057036

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