ClinVar Miner

List of variants studied for Epilepsy; Intellectual disability

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Total variants: 4
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 14q12(chr14:27450705-31529481)x3
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3
NM_001110792.2(MECP2):c.63-5800_1271del
Single allele

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