List of variants in gene COG1, LOC125316790 studied for COG1 congenital disorder of glycosylation

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_018714.3(COG1):c.2231A>G (p.Tyr744Cys)	rs7208207	0.00447
NM_018714.3(COG1):c.2221-7C>T	rs574849133	0.00018
NM_018714.3(COG1):c.2222C>T (p.Pro741Leu)	rs200395052	0.00009
NM_018714.3(COG1):c.2262G>C (p.Gln754His)	rs756535197	0.00009
NM_018714.3(COG1):c.2223G>A (p.Pro741=)	rs147260793	0.00008
NM_018714.3(COG1):c.2281G>A (p.Gly761Ser)	rs771789779	0.00006
NM_018714.3(COG1):c.2221-14_2221-13del	rs374132938
NM_018714.3(COG1):c.2222C>A (p.Pro741Gln)	rs200395052
NM_018714.3(COG1):c.2225C>A (p.Ser742Tyr)
NM_018714.3(COG1):c.2233G>A (p.Val745Ile)	rs2061356029
NM_018714.3(COG1):c.2272C>T (p.Arg758Trp)	rs146952271

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