ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_021922.3(FANCE):c.*151A>G rs16876572 0.05645
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_021922.3(FANCE):c.-56C>T rs4713866 0.01055
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr) rs142903218 0.00221
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_021922.3(FANCE):c.696G>A (p.Glu232=) rs147356927 0.00098
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu) rs45600543 0.00083
NM_021922.3(FANCE):c.-126T>A rs930863473 0.00062
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr) rs587778335 0.00061
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln) rs45467798 0.00060
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser) rs141268133 0.00059
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_021922.3(FANCE):c.-105C>T rs886061326 0.00035
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg) rs45524646 0.00032
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr) rs753304968 0.00028
NM_021922.3(FANCE):c.1116C>T (p.Ile372=) rs143234424 0.00027
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln) rs758238449 0.00026
NM_021922.3(FANCE):c.-197C>T rs45570533 0.00019
NM_021922.3(FANCE):c.-19G>C rs13215706 0.00019
NM_021922.3(FANCE):c.-167C>T rs911947663 0.00017
NM_021922.3(FANCE):c.-100C>T rs374493565 0.00013
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp) rs375195621 0.00013
NM_021922.3(FANCE):c.1317-11C>T rs147572271 0.00009
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) rs552241929 0.00009
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg) rs200083899 0.00008
NM_021922.3(FANCE):c.552A>C (p.Pro184=) rs138182352 0.00006
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe) rs759124595 0.00005
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_021922.3(FANCE):c.1509C>T (p.Asn503=) rs147166240 0.00004
NM_021922.3(FANCE):c.-132A>G rs886061325 0.00003
NM_021922.3(FANCE):c.*213T>A rs532782953 0.00002
NM_021922.3(FANCE):c.*322C>T rs559999264 0.00002
NM_021922.3(FANCE):c.*401G>C rs886061333 0.00001
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe) rs1236565765 0.00001
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp) rs886061331 0.00001
NM_021922.3(FANCE):c.216G>T (p.Pro72=) rs886061328 0.00001
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys) rs181761362 0.00001
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp) rs748817910 0.00001
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe) rs886061329 0.00001
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp) rs779336261 0.00001
NM_021922.3(FANCE):c.*225T>C rs1767848319
NM_021922.3(FANCE):c.*63C>T rs1767839821
NM_021922.3(FANCE):c.-162G>C rs979441521
NM_021922.3(FANCE):c.-182G>A rs886061324
NM_021922.3(FANCE):c.-32A>T rs1767142098
NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro) rs886061330
NM_021922.3(FANCE):c.1113+6T>C rs764119752
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp) rs1767153896
NM_021922.3(FANCE):c.1263T>C (p.Cys421=) rs747692546
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp) rs200535245
NM_021922.3(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.387A>T (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.480C>A (p.Cys160Ter) rs45509302
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln) rs139600847
NM_021922.3(FANCE):c.937C>T (p.Leu313=) rs557021652

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