ClinVar Miner

List of variants in gene combination COG7, LOC130058658 reported as likely benign for COG7 congenital disorder of glycosylation

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Total variants: 14
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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.123G>A (p.Val41=) rs749232479 0.00016
NM_153603.4(COG7):c.136C>T (p.Leu46=) rs141138076 0.00010
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.120G>A (p.Leu40=) rs770802986 0.00002
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.90C>T (p.Ser30=) rs1321262415 0.00001
NM_153603.4(COG7):c.19C>T (p.Leu7=) rs2506686406
NM_153603.4(COG7):c.75C>T (p.Ser25=) rs149481813
NM_153603.4(COG7):c.81G>A (p.Glu27=) rs1235378024
NM_153603.4(COG7):c.84G>C (p.Ala28=)

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