List of variants studied for congenital disorder of glycosylation type II by Mendelics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_015386.3(COG4):c.485C>T (p.Thr162Ile)	rs3931036	0.95397
NM_015386.3(COG4):c.1314+86A>C	rs2303791	0.62527
NM_018475.5(TMEM165):c.2_3del	rs35154686	0.29449
NM_020751.3(COG6):c.358A>G (p.Ser120Gly)	rs139313781	0.00280
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)	rs142433421	0.00063
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)	rs779241085	0.00005
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)	rs142863074	0.00003
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)	rs755786784	0.00001
NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr)	rs1587756000
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
NM_018714.3(COG1):c.2665dup (p.Arg889fs)	rs747606976
NM_020751.3(COG6):c.154-2A>G	rs1593402927

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