ClinVar Miner

List of variants reported as uncertain significance for Familial Candidiasis, Recessive by Illumina Laboratory Services, Illumina

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_014339.7(IL17RA):c.*5827G>C rs117907128 0.01397
NM_014339.7(IL17RA):c.*3180G>T rs4819961 0.00858
NM_014339.7(IL17RA):c.*2819del rs376084268 0.00664
NM_014339.7(IL17RA):c.*3092A>T rs143177937 0.00637
NM_014339.7(IL17RA):c.*4000T>A rs187117742 0.00386
NM_014339.7(IL17RA):c.*1310A>G rs141573482 0.00327
NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) rs140221307 0.00230
NM_014339.7(IL17RA):c.1530C>T (p.Asp510=) rs148319877 0.00227
NM_014339.7(IL17RA):c.*3180del rs886057226 0.00137
NM_014339.7(IL17RA):c.*147G>C rs41516248 0.00091
NM_014339.7(IL17RA):c.*2346del rs770923252 0.00057
NM_014339.7(IL17RA):c.*3181T>G rs73876645 0.00053
NM_014339.7(IL17RA):c.*5061C>T rs560929034 0.00032
NM_014339.7(IL17RA):c.561C>T (p.His187=) rs371342533 0.00012
NM_014339.7(IL17RA):c.*3597G>A rs146974604 0.00008
NM_014339.7(IL17RA):c.*2570_*2571del rs886057222 0.00007
NM_014339.7(IL17RA):c.*4737A>G rs537299665 0.00001
NM_014339.7(IL17RA):c.*1014dup rs886057213
NM_014339.7(IL17RA):c.*1067G>A rs866985543
NM_014339.7(IL17RA):c.*191C>G rs886057206
NM_014339.7(IL17RA):c.*2662_*2668del rs369637114
NM_014339.7(IL17RA):c.*2836CT[1] rs1461063811
NM_014339.7(IL17RA):c.*3179_*3180insTGTT rs1555875263
NM_014339.7(IL17RA):c.*3179_*3180insTTGT rs886057225
NM_014339.7(IL17RA):c.*3179del rs547906480
NM_014339.7(IL17RA):c.*3194del rs76724856
NM_014339.7(IL17RA):c.*3194dup rs76724856
NM_014339.7(IL17RA):c.*3383_*3384del rs886057229
NM_014339.7(IL17RA):c.*4657_*4662del rs886057236
NM_014339.7(IL17RA):c.*4761GAG[2] rs553515179
NM_014339.7(IL17RA):c.*5776_*5779dup rs11389817
NM_014339.7(IL17RA):c.*5778_*5779dup rs11389817
NM_014339.7(IL17RA):c.*5779del rs11389817
NM_014339.7(IL17RA):c.*677_*678del rs1555875059
NM_014339.7(IL17RA):c.*677del rs886057210
NM_014339.7(IL17RA):c.*697del rs886057212
NM_014339.7(IL17RA):c.424-12C>T rs531208196

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