ClinVar Miner

List of variants in gene ALG6 reported as likely pathogenic for ALG6-congenital disorder of glycosylation 1C

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_013339.4(ALG6):c.1A>G (p.Met1Val) rs562934427 0.00004
NM_013339.4(ALG6):c.1249del (p.Gln417fs) rs771069984 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013339.4(ALG6):c.902+1G>A rs1036516188 0.00003
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013339.4(ALG6):c.257+2dup rs745426479 0.00002
NM_013339.4(ALG6):c.337C>T (p.Arg113Cys) rs754672490 0.00002
NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu) rs763303967 0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) rs762643273 0.00001
NM_013339.4(ALG6):c.2T>C (p.Met1Thr) rs1387214955 0.00001
NM_013339.4(ALG6):c.429+1G>T rs781097055 0.00001
NM_013339.4(ALG6):c.495-2A>G rs1227131990 0.00001
NM_013339.4(ALG6):c.680+1G>A rs1253289234 0.00001
NM_013339.4(ALG6):c.680+2T>G rs868768232 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NC_000001.10:g.(?_63867915)_(63868024_?)del
NC_000001.10:g.(?_63881705)_(63885042_?)del
NC_000001.11:g.(?_63396503)_(63396607_?)dup
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs) rs1644562014
NM_013339.4(ALG6):c.100_101del (p.Met34fs) rs1648830820
NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter) rs2523768354
NM_013339.4(ALG6):c.1013del (p.Leu338fs) rs2523768344
NM_013339.4(ALG6):c.1018del (p.Ser340fs) rs1269984067
NM_013339.4(ALG6):c.1058+1G>A rs2523768434
NM_013339.4(ALG6):c.1076T>A (p.Leu359Ter) rs2523793339
NM_013339.4(ALG6):c.1113del (p.Val372fs) rs748022092
NM_013339.4(ALG6):c.1127+1G>A rs1557597486
NM_013339.4(ALG6):c.1128-1G>A rs1644631015
NM_013339.4(ALG6):c.1128-2A>C rs1553156882
NM_013339.4(ALG6):c.1136del (p.Pro379fs) rs1553156884
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter) rs1648831627
NM_013339.4(ALG6):c.1167del (p.Ser390fs) rs769698652
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs) rs1553156894
NM_013339.4(ALG6):c.1194dup (p.Ile399fs) rs1207096732
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs) rs1644631895
NM_013339.4(ALG6):c.131G>A (p.Trp44Ter)
NM_013339.4(ALG6):c.1326+1G>A rs1475789647
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro) rs121908444
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer) rs756566938
NM_013339.4(ALG6):c.168-1G>A rs2523723184
NM_013339.4(ALG6):c.168-2A>G
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.230_238delinsTCTCCTAT (p.Ala77fs) rs2523723537
NM_013339.4(ALG6):c.232del (p.Tyr78fs) rs2523723541
NM_013339.4(ALG6):c.257+2T>C rs1644468935
NM_013339.4(ALG6):c.258-2A>C rs2100415367
NM_013339.4(ALG6):c.258-9_267del rs2100415350
NM_013339.4(ALG6):c.262A>T (p.Lys88Ter)
NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs) rs2523729722
NM_013339.4(ALG6):c.347-2A>G rs2523734922
NM_013339.4(ALG6):c.350T>A (p.Leu117Ter) rs2523734931
NM_013339.4(ALG6):c.408del (p.Glu137fs)
NM_013339.4(ALG6):c.428del (p.Lys143fs) rs1471326272
NM_013339.4(ALG6):c.429+1G>A rs781097055
NM_013339.4(ALG6):c.429+2T>C rs1270337982
NM_013339.4(ALG6):c.429+2T>G rs1270337982
NM_013339.4(ALG6):c.430-2A>G rs1553155565
NM_013339.4(ALG6):c.492dup (p.Gln165fs) rs1644493041
NM_013339.4(ALG6):c.493del (p.Gln165fs) rs2523737978
NM_013339.4(ALG6):c.494+2T>C
NM_013339.4(ALG6):c.495-2A>T rs1227131990
NM_013339.4(ALG6):c.506_507del (p.Val169fs) rs1274913587
NM_013339.4(ALG6):c.506dup (p.Ser170fs)
NM_013339.4(ALG6):c.536_537del (p.Leu179fs) rs2523747951
NM_013339.4(ALG6):c.57G>A (p.Trp19Ter) rs2523646410
NM_013339.4(ALG6):c.634dup (p.Cys212fs) rs879133727
NM_013339.4(ALG6):c.654T>A (p.Cys218Ter) rs1208389261
NM_013339.4(ALG6):c.657del (p.Phe219fs) rs2523748367
NM_013339.4(ALG6):c.658A>T (p.Lys220Ter) rs1644514822
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs) rs1553153399
NM_013339.4(ALG6):c.663del (p.Gly222fs) rs964851138
NM_013339.4(ALG6):c.665_669dup (p.Lys224fs) rs2523748412
NM_013339.4(ALG6):c.670A>T (p.Lys224Ter) rs2523748430
NM_013339.4(ALG6):c.680+1G>T rs1253289234
NM_013339.4(ALG6):c.680+1del rs1644514998
NM_013339.4(ALG6):c.681-1G>T rs2523750197
NM_013339.4(ALG6):c.684del (p.Phe228fs) rs2100421533
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs) rs1553155823
NM_013339.4(ALG6):c.737_738delinsC (p.Trp246fs)
NM_013339.4(ALG6):c.738G>A (p.Trp246Ter) rs997338018
NM_013339.4(ALG6):c.772C>T (p.Gln258Ter) rs2523750476
NM_013339.4(ALG6):c.789_790del (p.Phe264fs) rs767943869
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer) rs2100421727
NM_013339.4(ALG6):c.82+1G>A rs771618945
NM_013339.4(ALG6):c.820A>T (p.Lys274Ter) rs398124259
NM_013339.4(ALG6):c.82_82+8del rs1424742651
NM_013339.4(ALG6):c.864dup (p.Lys289Ter)
NM_013339.4(ALG6):c.893T>A (p.Leu298Ter) rs2523755672
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_013339.4(ALG6):c.902+2dup rs2523755782
NM_013339.4(ALG6):c.91A>T (p.Lys31Ter)
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter) rs1644543791
NM_013339.4(ALG6):c.924C>A (p.Ser308Arg) rs2523760621
NM_013339.4(ALG6):c.947T>G (p.Leu316Ter) rs1644543906
NM_013339.4(ALG6):c.947_950del (p.Leu316fs) rs2523760673
NM_013339.4(ALG6):c.987+1G>T rs1644544168
NM_013339.4(ALG6):c.988-1G>A rs781473515

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