ClinVar Miner

List of variants in gene combination ABCF2, AGAP3, ASB10, ASIC3, CDK5, CHPF2, CRYGN, FASTK, GALNT11, GALNTL5, GBX1, KMT2C, MIR671, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86, XRCC2 reported as pathogenic for Kleefstra syndrome 2

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 7q36.1(chr7:150745923-152373214)x1

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