ClinVar Miner

List of variants studied for SLC35A2-congenital disorder of glycosylation by Mendelics

Included ClinVar conditions (1):

SLC35A2-congenital disorder of glycosylation

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005660.3(SLC35A2):c.128T>C (p.Leu43Pro)	rs1602344901
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu)	rs1042469070
NM_005660.3(SLC35A2):c.389_391del (p.Tyr130_Val131delinsPhe)	rs1602340350
NM_005660.3(SLC35A2):c.520CTC[1] (p.Leu175del)	rs1602338996

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