ClinVar Miner

List of variants in gene FANCB studied for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001018113.2(FANCB):c.*14T>C rs2375726
NM_001018113.2(FANCB):c.*33T>C rs187611308
NM_001018113.2(FANCB):c.*66T>G rs143434225
NM_001018113.2(FANCB):c.-173G>C rs2188383
NM_001018113.2(FANCB):c.-229T>G rs149617434
NM_001018113.2(FANCB):c.-230A>T rs1020271259
NM_001018113.2(FANCB):c.-232G>A rs756766337
NM_001018113.2(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.2(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.2(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.2(FANCB):c.1310C>T (p.Thr437Met) rs772802668
NM_001018113.2(FANCB):c.1327-10T>C rs2905223
NM_001018113.2(FANCB):c.1327-3delT rs202067682
NM_001018113.2(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.2(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.2(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.2(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.2(FANCB):c.1817G>A (p.Ser606Asn) rs148560784
NM_001018113.2(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001018113.2(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.2(FANCB):c.2411A>G (p.Asp804Gly) rs148257882
NM_001018113.2(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.2(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.2(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.2(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.2(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001018113.2(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.2(FANCB):c.869T>C (p.Met290Thr) rs754552650
NM_001018113.2(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.2(FANCB):c.952-13C>T rs1057515807

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