ClinVar Miner

List of variants in gene FANCE studied for Fanconi anemia complementation group A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_021922.2(FANCE):c.*151A>G rs16876572
NM_021922.2(FANCE):c.*216del rs45584740
NM_021922.2(FANCE):c.*322C>T rs559999264
NM_021922.2(FANCE):c.*401G>C rs886061333
NM_021922.2(FANCE):c.*729A>G rs886061334
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.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1290G>T (p.Glu430Asp) rs886061331
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.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.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.387A>C (p.Pro129=) rs4713867
NM_021922.2(FANCE):c.4G>C (p.Ala2Pro) rs886061327
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.977T>G (p.Leu326Trp) rs779336261

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