ClinVar Miner

List of variants reported for COG7 congenital disorder of glycosylation by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_153603.4(COG7):c.567T>C (p.Ser189=) rs115543944 0.00101
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr) rs145412851 0.00031
NM_153603.4(COG7):c.811-14C>G rs545654100 0.00016
NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys) rs146603761 0.00014
NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr) rs376426601 0.00002
NM_153603.4(COG7):c.1090G>A (p.Asp364Asn) rs764545607
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178

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