List of variants reported as likely pathogenic by Dongguan Key Laboratory of Genetics and Infectious Diseases, Dongguan Institute of Pediatrics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015701.5(ERLEC1):c.1448A>G (p.Asn483Ser)	rs146951835	0.00005
NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr)	rs1373789245
NM_015701.5(ERLEC1):c.419C>G (p.Thr140Ser)	rs751933066
NM_015701.5(ERLEC1):c.419C>T (p.Thr140Ile)	rs751933066

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