ClinVar Miner

Variants with conflicting interpretations "likely benign" from Institute of Human Genetics, University of Leipzig Medical Center and "pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University of Leipzig Medical Center: Collection method of the submission from Institute of Human Genetics, University of Leipzig Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn) rs28936395 0.00287
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456

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