ClinVar Miner

List of variants in gene combination ADAM28, ADAM7, ADAMDEC1, ASAH1, ATP6V1B2, BIN3, BMP1, C8orf48, C8orf58, CCAR2, CDCA2, CHMP7, CNOT7, CSGALNACT1, DLC1, DMTN, DOCK5, DOK2, EBF2, EGR3, ENTPD4, FGF17, FGF20, FGL1, FHIP2B, GFRA2, GNRH1, HR, INTS10, KCTD9, LGI3, LONRF1, LOXL2, LPL, LZTS1, MICU3, MIR320A, MSR1, MTMR7, MTUS1, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NUDT18, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, POLR3D, PPP3CC, PSD3, R3HCC1, REEP4, RHOBTB2, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SORBS3, STC1, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRMT9B, TUSC3, VPS37A, XPO7, ZDHHC2 reported as pathogenic for Autism; Micrognathia; Low-set ears; Delayed speech and language development; Narrow forehead; Wide nasal bridge; Intellectual disability, mild; Delayed fine motor development

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)

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