ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 39 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 2q31.1(chr2:172644081-172644457)
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn)	rs1553469156

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