ClinVar Miner

List of variants reported as uncertain significance for COG7 congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00233
NM_153603.4(COG7):c.*30C>G rs200982091 0.00171
NM_153603.4(COG7):c.1971C>T (p.His657=) rs114458562 0.00156
NM_153603.4(COG7):c.2283C>T (p.Thr761=) rs144814374 0.00150
NM_153603.4(COG7):c.1137+11A>C rs74012174 0.00124
NM_153603.4(COG7):c.900C>T (p.Asn300=) rs112611398 0.00091
NM_153603.4(COG7):c.1113C>T (p.Leu371=) rs114661874 0.00078
NM_153603.4(COG7):c.319-12C>T rs201965984 0.00077
NM_153603.4(COG7):c.1455C>T (p.Phe485=) rs116153163 0.00068
NM_153603.4(COG7):c.75C>G (p.Ser25=) rs149481813 0.00068
NM_153603.4(COG7):c.2052G>A (p.Ser684=) rs142744907 0.00060
NM_153603.4(COG7):c.170-4A>G rs544015151 0.00032
NM_153603.4(COG7):c.86C>T (p.Ala29Val) rs146918812 0.00022
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr) rs115073082 0.00014
NM_153603.4(COG7):c.904G>A (p.Val302Met) rs116314856 0.00014
NM_153603.4(COG7):c.*193G>A rs191591988 0.00010
NM_153603.4(COG7):c.1973C>G (p.Ala658Gly) rs770639224 0.00008
NM_153603.4(COG7):c.241T>G (p.Ser81Ala) rs778408190 0.00007
NM_153603.4(COG7):c.1851C>T (p.Pro617=) rs748835759 0.00006
NM_153603.4(COG7):c.973G>A (p.Ala325Thr) rs116804305 0.00006
NM_153603.4(COG7):c.1475+4G>A rs372160869 0.00005
NM_153603.4(COG7):c.1137+9G>A rs746762111 0.00004
NM_153603.4(COG7):c.386A>G (p.Asp129Gly) rs150979217 0.00004
NM_153603.4(COG7):c.963C>T (p.Thr321=) rs762510375 0.00004
NM_153603.4(COG7):c.1167G>A (p.Gln389=) rs201313774 0.00003
NM_153603.4(COG7):c.1410-6G>C rs369925503 0.00003
NM_153603.4(COG7):c.1629T>C (p.Tyr543=) rs760342154 0.00003
NM_153603.4(COG7):c.1804-13G>A rs759680428 0.00003
NM_153603.4(COG7):c.2296C>T (p.Arg766Trp) rs112011340 0.00003
NM_153603.4(COG7):c.838A>G (p.Met280Val) rs778121380 0.00003
NM_153603.4(COG7):c.1405A>G (p.Ile469Val) rs751036976 0.00002
NM_153603.4(COG7):c.1183G>A (p.Val395Met) rs369307885 0.00001
NM_153603.4(COG7):c.1532C>G (p.Ala511Gly) rs766815684 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_153603.4(COG7):c.371C>A (p.Ser124Tyr) rs1270268038 0.00001
NM_153603.4(COG7):c.687+14C>T rs139853094 0.00001
NM_153603.4(COG7):c.721C>A (p.Gln241Lys) rs758862580 0.00001
NM_153603.4(COG7):c.-141C>G rs1964294802
NM_153603.4(COG7):c.1005C>T (p.His335=) rs532636981
NM_153603.4(COG7):c.1090G>A (p.Asp364Asn) rs764545607
NM_153603.4(COG7):c.1305T>C (p.Asp435=) rs1019861391
NM_153603.4(COG7):c.1511C>G (p.Ser504Cys) rs1031815684
NM_153603.4(COG7):c.1820G>C (p.Gly607Ala) rs1444115658
NM_153603.4(COG7):c.1890C>A (p.Ile630=) rs199904223
NM_153603.4(COG7):c.2217A>G (p.Leu739=) rs778874347
NM_153603.4(COG7):c.2232T>A (p.Pro744=) rs1963141946
NM_153603.4(COG7):c.2270G>A (p.Arg757His) rs368733148

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