ClinVar Miner

List of variants reported as benign for Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects by Fulgent Genetics, Fulgent Genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)	rs7052858	0.00452
NM_006306.4(SMC1A):c.616-6G>A	rs587784424

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