ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago and "uncertain significance" from any submitter

Minimum review status of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago: Collection method of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00220
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) rs145229115 0.00131
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_017837.4(PIGV):c.348G>A (p.Leu116=) rs148662665 0.00096
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00036
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00033
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del) rs555544144
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524

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