ClinVar Miner

List of variants in gene CDR2, EEF2K, HS3ST2, MOSMO, NPIPB4, NPIPB5, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A studied for syndrome caused by partial chromosomal deletion

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1

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