ClinVar Miner

List of variants in gene combination ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 reported as pathogenic for chromosome 22q11.2 deletion syndrome, distal

Included ClinVar conditions (1):
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 22q11.21(chr22:18893838-20508931)x3

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