List of variants in gene COG7, LOC130058658 studied for COG7 congenital disorder of glycosylation

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

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_153603.4(COG7):c.75C>G (p.Ser25=)	rs149481813	0.00068
NM_153603.4(COG7):c.86C>T (p.Ala29Val)	rs146918812	0.00023
NM_153603.4(COG7):c.123G>A (p.Val41=)	rs749232479	0.00016
NM_153603.4(COG7):c.136C>T (p.Leu46=)	rs141138076	0.00010
NM_153603.4(COG7):c.110C>T (p.Ala37Val)	rs762150762	0.00008
NM_153603.4(COG7):c.69C>T (p.Ala23=)	rs369785066	0.00004
NM_153603.4(COG7):c.111A>G (p.Ala37=)	rs776897797	0.00002
NM_153603.4(COG7):c.119T>A (p.Leu40Gln)	rs775575683	0.00002
NM_153603.4(COG7):c.120G>A (p.Leu40=)	rs770802986	0.00002
NM_153603.4(COG7):c.109G>A (p.Ala37Thr)	rs1327432623	0.00001
NM_153603.4(COG7):c.117C>T (p.Thr39=)	rs768806926	0.00001
NM_153603.4(COG7):c.21G>A (p.Leu7=)	rs1169890622	0.00001
NM_153603.4(COG7):c.66G>A (p.Arg22=)	rs144356201	0.00001
NM_153603.4(COG7):c.74C>T (p.Ser25Phe)	rs752403903	0.00001
NM_153603.4(COG7):c.90C>T (p.Ser30=)	rs1321262415	0.00001
NM_153603.4(COG7):c.-141C>G	rs1964294802
NM_153603.4(COG7):c.103G>A (p.Gly35Ser)	rs2142101336
NM_153603.4(COG7):c.108C>A (p.His36Gln)	rs2506685922
NM_153603.4(COG7):c.11C>G (p.Ser4Cys)	rs1413701149
NM_153603.4(COG7):c.19C>T (p.Leu7=)	rs2506686406
NM_153603.4(COG7):c.1A>G (p.Met1Val)	rs1051352713
NM_153603.4(COG7):c.2T>C (p.Met1Thr)	rs1555497604
NM_153603.4(COG7):c.37G>T (p.Val13Leu)	rs1964291027
NM_153603.4(COG7):c.51C>G (p.Ile17Met)
NM_153603.4(COG7):c.75C>T (p.Ser25=)	rs149481813
NM_153603.4(COG7):c.79G>T (p.Glu27Ter)
NM_153603.4(COG7):c.81G>A (p.Glu27=)	rs1235378024
NM_153603.4(COG7):c.84G>C (p.Ala28=)

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