List of variants reported as pathogenic for congenital disorder of glycosylation type II by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	rs80356491	0.00026
NM_006302.3(MOGS):c.370C>T (p.Gln124Ter)	rs587777323	0.00007
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)	rs1048764460	0.00006
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)	rs1292534396	0.00003
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)	rs193302881	0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)	rs193302882	0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	rs121908978	0.00001
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)	rs1182102272

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