ClinVar Miner

List of variants reported as likely benign for COG6-ongenital disorder of glycosylation

Included ClinVar conditions (2):
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Total variants: 55
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HGVS dbSNP gnomAD frequency
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.153+19G>A rs45508796 0.00460
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_020751.3(COG6):c.358A>G (p.Ser120Gly) rs139313781 0.00280
NM_020751.3(COG6):c.320A>T (p.Asp107Val) rs146229425 0.00196
NM_020751.3(COG6):c.65A>G (p.Asn22Ser) rs149055210 0.00133
NM_020751.3(COG6):c.1693-12T>C rs561776134 0.00097
NM_020751.3(COG6):c.1645G>T (p.Gly549Cys) rs141114931 0.00078
NM_020751.3(COG6):c.1145A>G (p.Lys382Arg) rs139371264 0.00073
NM_020751.3(COG6):c.1693-7T>A rs34566895 0.00073
NM_020751.3(COG6):c.1947G>A (p.Pro649=) rs147311831 0.00069
NM_020751.3(COG6):c.-53T>G rs534007509 0.00046
NM_020751.3(COG6):c.370-18A>G rs184193902 0.00043
NM_020751.3(COG6):c.1233A>G (p.Lys411=) rs201806513 0.00035
NM_020751.3(COG6):c.1263T>C (p.His421=) rs147295042 0.00024
NM_020751.3(COG6):c.1075-12A>C rs370228676 0.00016
NM_020751.3(COG6):c.261T>C (p.Asn87=) rs146261996 0.00016
NM_020751.3(COG6):c.1533A>T (p.Thr511=) rs201542120 0.00012
NM_020751.3(COG6):c.303T>C (p.Leu101=) rs764185523 0.00010
NM_020751.3(COG6):c.1140C>T (p.Leu380=) rs772945485 0.00008
NM_020751.3(COG6):c.1071A>G (p.Leu357=) rs746862943 0.00005
NM_020751.3(COG6):c.336C>T (p.Ser112=) rs111943857 0.00004
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 0.00003
NM_020751.3(COG6):c.1368C>T (p.His456=) rs550615578 0.00002
NM_020751.3(COG6):c.1558A>C (p.Arg520=) rs760219472 0.00002
NM_020751.3(COG6):c.1009+15T>C rs757170273 0.00001
NM_020751.3(COG6):c.123G>A (p.Lys41=) rs757337069 0.00001
NM_020751.3(COG6):c.126C>T (p.Ile42=) rs746085866 0.00001
NM_020751.3(COG6):c.154-12C>T rs368678409 0.00001
NM_020751.3(COG6):c.*315del rs142947196
NM_020751.3(COG6):c.*889T>A rs374465943
NM_020751.3(COG6):c.1140C>G (p.Leu380=)
NM_020751.3(COG6):c.1242C>T (p.Phe414=) rs2138033067
NM_020751.3(COG6):c.1357T>C (p.Leu453=) rs2138074922
NM_020751.3(COG6):c.1362A>G (p.Ala454=)
NM_020751.3(COG6):c.153+11C>A rs371609631
NM_020751.3(COG6):c.1542A>G (p.Leu514=)
NM_020751.3(COG6):c.1587C>T (p.Ile529=)
NM_020751.3(COG6):c.1602C>T (p.Asp534=)
NM_020751.3(COG6):c.1692+12G>C
NM_020751.3(COG6):c.1692+14T>C
NM_020751.3(COG6):c.1692+19C>T rs200316624
NM_020751.3(COG6):c.1692+9A>G
NM_020751.3(COG6):c.1747-19A>G rs776576163
NM_020751.3(COG6):c.1786T>C (p.Leu596=)
NM_020751.3(COG6):c.24G>A (p.Val8=)
NM_020751.3(COG6):c.370-18A>T
NM_020751.3(COG6):c.694+7G>T
NM_020751.3(COG6):c.723A>G (p.Ser241=)
NM_020751.3(COG6):c.788+10T>A rs1876360494
NM_020751.3(COG6):c.84G>C (p.Ser28=) rs374783198
NM_020751.3(COG6):c.870C>T (p.Pro290=)
NM_020751.3(COG6):c.981A>G (p.Glu327=) rs2138007330
NM_020751.3(COG6):c.993G>A (p.Lys331=)

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