ClinVar Miner

List of variants studied for congenital disorder of glycosylation, type IIq by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_007357.3(COG2):c.2217A>G (p.Ter739=) rs1051038 0.24224
NM_007357.3(COG2):c.912T>A (p.Asn304Lys) rs6681346 0.06884
NM_007357.3(COG2):c.1036A>G (p.Ile346Val) rs11558606 0.05635
NM_007357.3(COG2):c.264T>G (p.Leu88=) rs16852160 0.03286
NM_007357.3(COG2):c.1765G>A (p.Val589Ile) rs34109129 0.01764
NM_007357.3(COG2):c.567C>T (p.Gly189=) rs77326385 0.00855
NM_007357.3(COG2):c.708G>A (p.Thr236=) rs34010781 0.00660
NM_007357.3(COG2):c.1014T>C (p.Asp338=) rs113173809 0.00426
NM_007357.3(COG2):c.183C>T (p.Val61=) rs79749108 0.00410
NM_007357.3(COG2):c.1532C>G (p.Thr511Ser) rs143526339 0.00255
NM_007357.3(COG2):c.381+4T>C rs202180616 0.00213
NM_007357.3(COG2):c.1528C>T (p.Arg510Cys) rs142812849 0.00173
NM_007357.3(COG2):c.402A>G (p.Ile134Met) rs139595158 0.00106
NM_007357.3(COG2):c.2166C>T (p.Leu722=) rs2296801 0.00080
NM_007357.3(COG2):c.627G>A (p.Gln209=) rs150261948 0.00068
NM_007357.3(COG2):c.1911C>T (p.Gly637=) rs138149289 0.00062
NM_007357.3(COG2):c.218A>G (p.Asn73Ser) rs201791868 0.00058
NM_007357.3(COG2):c.381+8C>T rs369923399 0.00054
NM_007357.3(COG2):c.485+8T>A rs200082688 0.00054
NM_007357.3(COG2):c.1740C>T (p.Phe580=) rs143945965 0.00049
NM_007357.3(COG2):c.2115+14C>T rs190842171 0.00048
NM_007357.3(COG2):c.846T>C (p.Phe282=) rs145037094 0.00042
NM_007357.3(COG2):c.2026G>A (p.Ala676Thr) rs149248784 0.00031
NM_007357.3(COG2):c.405A>G (p.Gln135=) rs182580653 0.00025
NM_007357.3(COG2):c.2061C>T (p.Asp687=) rs374676672 0.00024
NM_007357.3(COG2):c.772G>A (p.Glu258Lys) rs151309110 0.00020
NM_007357.3(COG2):c.2110G>A (p.Glu704Lys) rs140155560 0.00019
NM_007357.3(COG2):c.1189T>C (p.Leu397=) rs372067889 0.00018
NM_007357.3(COG2):c.1957G>A (p.Val653Ile) rs747920088 0.00015
NM_007357.3(COG2):c.899+15C>G rs753476484 0.00015
NM_007357.3(COG2):c.1015G>C (p.Ala339Pro) rs767969104 0.00013
NM_007357.3(COG2):c.1358G>A (p.Arg453Gln) rs372577276 0.00011
NM_007357.3(COG2):c.1601T>A (p.Ile534Asn) rs141178219 0.00011
NM_007357.3(COG2):c.1026+10C>T rs375207649 0.00007
NM_007357.3(COG2):c.1066C>T (p.Arg356Trp) rs200705175 0.00007
NM_007357.3(COG2):c.115C>T (p.Arg39Trp) rs758358715 0.00006
NM_007357.3(COG2):c.1387C>T (p.Leu463Phe) rs141191461 0.00006
NM_007357.3(COG2):c.2115+7C>T rs368903742 0.00006
NM_007357.3(COG2):c.412C>T (p.Arg138Trp) rs748137002 0.00006
NM_007357.3(COG2):c.722G>A (p.Arg241Gln) rs565186449 0.00006
NM_007357.3(COG2):c.900-19A>T rs888544323 0.00006
NM_007357.3(COG2):c.1381-10C>T rs765517219 0.00005
NM_007357.3(COG2):c.1755C>T (p.Ser585=) rs557988820 0.00005
NM_007357.3(COG2):c.1934+3A>G rs368077748 0.00005
NM_007357.3(COG2):c.1709A>G (p.Lys570Arg) rs752620342 0.00003
NM_007357.3(COG2):c.73-19C>T rs376755531 0.00003
NM_007357.3(COG2):c.1825G>A (p.Asp609Asn) rs542540708 0.00002
NM_007357.3(COG2):c.1067G>A (p.Arg356Gln) rs1451969018 0.00001
NM_007357.3(COG2):c.1107C>T (p.Ala369=) rs780488482 0.00001
NM_007357.3(COG2):c.1182G>A (p.Ala394=) rs756696138 0.00001
NM_007357.3(COG2):c.1467A>G (p.Gln489=) rs747018671 0.00001
NM_007357.3(COG2):c.1565A>G (p.Lys522Arg) rs570696606 0.00001
NM_007357.3(COG2):c.2065G>T (p.Asp689Tyr) rs779134446 0.00001
NM_007357.3(COG2):c.860G>A (p.Cys287Tyr) rs1413978375 0.00001
NC_000001.10:g.(?_230203028)_(231413288_?)del
NM_007357.3(COG2):c.1002T>C (p.Pro334=)
NM_007357.3(COG2):c.1026+11G>A rs200709537
NM_007357.3(COG2):c.1026+14C>T
NM_007357.3(COG2):c.1040G>A (p.Ser347Asn)
NM_007357.3(COG2):c.109A>G (p.Arg37Gly) rs2102749319
NM_007357.3(COG2):c.1133A>G (p.Lys378Arg) rs773980476
NM_007357.3(COG2):c.1166+19G>A
NM_007357.3(COG2):c.1167-19C>A
NM_007357.3(COG2):c.1182G>C (p.Ala394=)
NM_007357.3(COG2):c.1284G>T (p.Arg428Ser) rs1194562705
NM_007357.3(COG2):c.1301T>C (p.Met434Thr)
NM_007357.3(COG2):c.1329G>A (p.Leu443=)
NM_007357.3(COG2):c.1392G>A (p.Arg464=) rs2102772880
NM_007357.3(COG2):c.1407A>G (p.Glu469=) rs2102772897
NM_007357.3(COG2):c.145C>T (p.Leu49=)
NM_007357.3(COG2):c.1480G>A (p.Asp494Asn)
NM_007357.3(COG2):c.151C>T (p.Leu51Phe) rs2102749359
NM_007357.3(COG2):c.1578+11G>C
NM_007357.3(COG2):c.1622T>C (p.Ile541Thr) rs1662927499
NM_007357.3(COG2):c.174A>G (p.Thr58=)
NM_007357.3(COG2):c.1765G>C (p.Val589Leu) rs34109129
NM_007357.3(COG2):c.1800C>G (p.Val600=)
NM_007357.3(COG2):c.184G>A (p.Glu62Lys)
NM_007357.3(COG2):c.189C>T (p.Leu63=)
NM_007357.3(COG2):c.1935-3A>G
NM_007357.3(COG2):c.1965C>T (p.Asn655=) rs2102777014
NM_007357.3(COG2):c.1977G>A (p.Lys659=)
NM_007357.3(COG2):c.2034C>T (p.Pro678=) rs575955728
NM_007357.3(COG2):c.2115+18G>A
NM_007357.3(COG2):c.2139_2142del (p.Ser714fs)
NM_007357.3(COG2):c.2159C>T (p.Ser720Leu)
NM_007357.3(COG2):c.235-8del
NM_007357.3(COG2):c.260del (p.Gln87fs)
NM_007357.3(COG2):c.300+11C>T
NM_007357.3(COG2):c.312G>A (p.Ser104=)
NM_007357.3(COG2):c.36G>A (p.Pro12=) rs537982202
NM_007357.3(COG2):c.413G>A (p.Arg138Gln)
NM_007357.3(COG2):c.42G>A (p.Thr14=)
NM_007357.3(COG2):c.435A>G (p.Lys145=) rs1228384430
NM_007357.3(COG2):c.436dup (p.Ile146fs) rs1031719032
NM_007357.3(COG2):c.479C>T (p.Ala160Val)
NM_007357.3(COG2):c.482G>A (p.Ser161Asn)
NM_007357.3(COG2):c.485+19A>G
NM_007357.3(COG2):c.489C>T (p.Pro163=) rs2102757233
NM_007357.3(COG2):c.504A>C (p.Gln168His) rs377285547
NM_007357.3(COG2):c.601G>A (p.Ala201Thr)
NM_007357.3(COG2):c.615C>T (p.Ala205=)
NM_007357.3(COG2):c.695G>T (p.Arg232Leu)
NM_007357.3(COG2):c.809A>G (p.Asn270Ser)
NM_007357.3(COG2):c.81C>T (p.Phe27=)
NM_007357.3(COG2):c.843G>A (p.Glu281=)
NM_007357.3(COG2):c.872G>A (p.Arg291Gln)
NM_007357.3(COG2):c.900-20T>C
NM_007357.3(COG2):c.936G>A (p.Leu312=) rs1662550597
NM_007357.3(COG2):c.987C>G (p.Pro329=)

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