ClinVar Miner

List of variants studied for Fanconi anemia complementation group E by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_021922.2(FANCE):c.*151A>G rs16876572
NM_021922.2(FANCE):c.*322C>T rs559999264
NM_021922.2(FANCE):c.*401G>C rs886061333
NM_021922.2(FANCE):c.-100C>T rs374493565
NM_021922.2(FANCE):c.-105C>T rs886061326
NM_021922.2(FANCE):c.-132A>G rs886061325
NM_021922.2(FANCE):c.-182G>A rs886061324
NM_021922.2(FANCE):c.-19G>C rs13215706
NM_021922.2(FANCE):c.-56C>T rs4713866
NM_021922.2(FANCE):c.1007T>C (p.Leu336Pro) rs886061330
NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) rs45524646
NM_021922.2(FANCE):c.1028G>A (p.Arg343Gln) rs45467798
NM_021922.2(FANCE):c.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1095A>C (p.Arg365Ser) rs141268133
NM_021922.2(FANCE):c.1116C>T (p.Ile372=) rs143234424
NM_021922.2(FANCE):c.1290G>T (p.Glu430Asp) rs886061331
NM_021922.2(FANCE):c.1310T>C (p.Met437Thr) rs142903218
NM_021922.2(FANCE):c.1333C>T (p.Pro445Ser) rs141551053
NM_021922.2(FANCE):c.1378C>T (p.Arg460Trp) rs200535245
NM_021922.2(FANCE):c.1424A>G (p.Lys475Arg) rs200083899
NM_021922.2(FANCE):c.1504G>A (p.Ala502Thr) rs9462088
NM_021922.2(FANCE):c.1509C>T (p.Asn503=) rs147166240
NM_021922.2(FANCE):c.1510-11C>T rs189384185
NM_021922.2(FANCE):c.1572G>A (p.Arg524=) rs115195341
NM_021922.2(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.2(FANCE):c.206G>A (p.Arg69Gln) rs758238449
NM_021922.2(FANCE):c.216G>T (p.Pro72=) rs886061328
NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) rs587778335
NM_021922.2(FANCE):c.248+7C>A rs186563531
NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) rs145068586
NM_021922.2(FANCE):c.266G>T (p.Arg89Leu) rs45600543
NM_021922.2(FANCE):c.274C>T (p.Arg92Trp) rs375195621
NM_021922.2(FANCE):c.31G>A (p.Ala11Thr) rs753304968
NM_021922.2(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.2(FANCE):c.397C>T (p.Leu133Phe) rs759124595
NM_021922.2(FANCE):c.400C>T (p.Arg134Cys) rs181761362
NM_021922.2(FANCE):c.480C>A (p.Cys160Ter) rs45509302
NM_021922.2(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) rs552241929
NM_021922.2(FANCE):c.552A>C (p.Pro184=) rs138182352
NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) rs7761870
NM_021922.2(FANCE):c.696G>A (p.Glu232=) rs147356927
NM_021922.2(FANCE):c.862C>T (p.Leu288Phe) rs886061329
NM_021922.2(FANCE):c.929C>A (p.Pro310Gln) rs139600847
NM_021922.2(FANCE):c.977T>G (p.Leu326Trp) rs779336261
NM_021922.3(FANCE):c.*213T>A
NM_021922.3(FANCE):c.*225T>C
NM_021922.3(FANCE):c.*63C>T
NM_021922.3(FANCE):c.-126T>A
NM_021922.3(FANCE):c.-162G>C
NM_021922.3(FANCE):c.-167C>T
NM_021922.3(FANCE):c.-197C>T
NM_021922.3(FANCE):c.-32A>T
NM_021922.3(FANCE):c.1113+6T>C
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe)
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
NM_021922.3(FANCE):c.1317-11C>T
NM_021922.3(FANCE):c.387A>T (p.Pro129=)
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp)
NM_021922.3(FANCE):c.937C>T (p.Leu313=)

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