ClinVar Miner

List of variants reported as benign for Familial dysautonomia by Genome Diagnostics Laboratory,University Medical Center Utrecht

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Total variants: 4

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HGVS	dbSNP
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile)	rs2230798
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)	rs17853166
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)	rs1140064
NM_003640.5(ELP1):c.959-15C>T	rs112114410

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