ClinVar Miner

List of variants reported as benign for COG6-congenital disorder of glycosylation

Included ClinVar conditions (2):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.297+47C>T rs7330016 0.65748
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_020751.3(COG6):c.*80C>T rs4245396 0.40944
NM_020751.3(COG6):c.*1052A>G rs9943 0.35836
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28442
NM_020751.3(COG6):c.1074+18T>C rs9548882 0.20795
NM_020751.3(COG6):c.1340T>C (p.Met447Thr) rs41286961 0.05379
NM_020751.3(COG6):c.1693-6A>T rs78336861 0.03077
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_020751.3(COG6):c.1963C>A (p.Leu655Ile) rs114044193 0.00750
NM_020751.3(COG6):c.153+19G>A rs45508796 0.00460
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_020751.3(COG6):c.1693-7_1693-6del rs1491507046 0.00273
NM_020751.3(COG6):c.729C>T (p.Asp243=) rs117688574 0.00218
NM_020751.3(COG6):c.1308T>G (p.Leu436=) rs61754105 0.00118
NM_020751.3(COG6):c.1827-4A>G rs375878630 0.00021
NM_020751.3(COG6):c.1693-8_1693-6del rs375280565 0.00012
NM_020751.3(COG6):c.939T>C (p.Ala313=) rs550755756 0.00004
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 0.00003
NM_020751.3(COG6):c.*1093G>T rs114184435
NM_020751.3(COG6):c.1693-4del rs66629036
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.624-3dup rs397756552
NM_020751.3(COG6):c.855C>T (p.Leu285=) rs544831978

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