ClinVar Miner

List of variants reported as uncertain significance for ALG1-congenital disorder of glycosylation by Fulgent Genetics, Fulgent Genetics

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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.769C>T (p.Arg257Trp) rs759843220 0.00031
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr) rs143676440 0.00025
NM_019109.5(ALG1):c.812C>T (p.Thr271Met) rs368722637 0.00012
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val) rs569498428 0.00011
NM_019109.5(ALG1):c.284C>T (p.Ala95Val) rs368284764 0.00011
NM_019109.5(ALG1):c.802G>A (p.Gly268Arg) rs148611855 0.00011
NM_019109.5(ALG1):c.815G>A (p.Arg272His) rs560302928 0.00009
NM_019109.5(ALG1):c.457G>A (p.Val153Ile) rs750216032 0.00008
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg) rs145851409 0.00007
NM_019109.5(ALG1):c.335T>C (p.Met112Thr) rs150943251 0.00006
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu) rs570334955 0.00006
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln) rs763925138 0.00006
NM_019109.5(ALG1):c.993C>T (p.Arg331=) rs561385337 0.00006
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys) rs749270254 0.00005
NM_019109.5(ALG1):c.764C>T (p.Thr255Met) rs143906919 0.00005
NM_019109.5(ALG1):c.1048G>A (p.Ala350Thr) rs138275657 0.00004
NM_019109.5(ALG1):c.121G>A (p.Gly41Ser) rs1393282696 0.00004
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn) rs200353530 0.00004
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu) rs397839861 0.00004
NM_019109.5(ALG1):c.539+3G>C rs1040920105 0.00004
NM_019109.5(ALG1):c.545A>C (p.Glu182Ala) rs1011307139 0.00004
NM_019109.5(ALG1):c.715A>C (p.Ser239Arg) rs1373315673 0.00004
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys) rs774593969 0.00004
NM_019109.5(ALG1):c.919C>G (p.Leu307Val) rs368735974 0.00004
NM_019109.5(ALG1):c.29C>T (p.Ala10Val) rs767455250 0.00003
NM_019109.5(ALG1):c.560G>A (p.Arg187His) rs377600706 0.00003
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro) rs777949225 0.00003
NM_019109.5(ALG1):c.863A>G (p.Glu288Gly) rs776908571 0.00003
NM_019109.5(ALG1):c.880A>C (p.Ile294Leu) rs767003110 0.00003
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys) rs776299417 0.00003
NM_019109.5(ALG1):c.1001A>G (p.His334Arg) rs756058300 0.00002
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp) rs764363207 0.00002
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr) rs765599429 0.00002
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln) rs3204229 0.00002
NM_019109.5(ALG1):c.208+14_208+17dup rs746780708 0.00002
NM_019109.5(ALG1):c.401G>C (p.Gly134Ala) rs763309062 0.00002
NM_019109.5(ALG1):c.430G>A (p.Val144Met) rs770392954 0.00002
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys) rs201867255 0.00002
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe) rs569218235 0.00002
NC_000016.10:g.5071991C>T rs1051082443 0.00001
NM_019109.5(ALG1):c.1103C>T (p.Thr368Met) rs762385611 0.00001
NM_019109.5(ALG1):c.1293G>A (p.Ala431=) rs1047714 0.00001
NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr) rs1314923558 0.00001
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln) rs1349600746 0.00001
NM_019109.5(ALG1):c.443G>T (p.Cys148Phe) rs767756401 0.00001
NM_019109.5(ALG1):c.575A>G (p.Asn192Ser) rs760563077 0.00001
NM_019109.5(ALG1):c.70A>G (p.Lys24Glu) rs1386626500 0.00001
NM_019109.5(ALG1):c.782C>T (p.Thr261Met) rs534622519 0.00001
NM_019109.5(ALG1):c.1061C>G (p.Pro354Arg)
NM_019109.5(ALG1):c.1091T>G (p.Val364Gly)
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala) rs1394994402
NM_019109.5(ALG1):c.1193A>G (p.His398Arg) rs1292094188
NM_019109.5(ALG1):c.119T>C (p.Leu40Pro) rs2142698518
NM_019109.5(ALG1):c.123C>T (p.Gly41=)
NM_019109.5(ALG1):c.1250C>T (p.Ala417Val)
NM_019109.5(ALG1):c.125A>G (p.Asp42Gly)
NM_019109.5(ALG1):c.1265T>C (p.Met422Thr)
NM_019109.5(ALG1):c.1288C>A (p.Pro430Thr)
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val) rs370439294
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln) rs758197753
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)
NM_019109.5(ALG1):c.1348G>A (p.Asp450Asn)
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr) rs1957097146
NM_019109.5(ALG1):c.176A>C (p.His59Pro) rs773372110
NM_019109.5(ALG1):c.176A>G (p.His59Arg) rs773372110
NM_019109.5(ALG1):c.193C>G (p.Leu65Val)
NM_019109.5(ALG1):c.200G>T (p.Gly67Val) rs778626972
NM_019109.5(ALG1):c.208+19_208+20insTATG rs756830715
NM_019109.5(ALG1):c.20T>A (p.Val7Asp)
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)
NM_019109.5(ALG1):c.215A>T (p.Lys72Ile)
NM_019109.5(ALG1):c.22C>G (p.Leu8Val)
NM_019109.5(ALG1):c.253A>T (p.Ile85Phe)
NM_019109.5(ALG1):c.255T>G (p.Ile85Met)
NM_019109.5(ALG1):c.275A>C (p.Gln92Pro)
NM_019109.5(ALG1):c.29C>A (p.Ala10Glu) rs767455250
NM_019109.5(ALG1):c.305A>C (p.Gln102Pro)
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup) rs1436106795
NM_019109.5(ALG1):c.357G>A (p.Met119Ile)
NM_019109.5(ALG1):c.364G>C (p.Glu122Gln)
NM_019109.5(ALG1):c.390+5G>A
NM_019109.5(ALG1):c.400G>A (p.Gly134Ser)
NM_019109.5(ALG1):c.415G>T (p.Ala139Ser)
NM_019109.5(ALG1):c.46C>T (p.Pro16Ser)
NM_019109.5(ALG1):c.482A>G (p.Tyr161Cys)
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup) rs760240522
NM_019109.5(ALG1):c.509C>T (p.Pro170Leu)
NM_019109.5(ALG1):c.517C>T (p.Pro173Ser)
NM_019109.5(ALG1):c.523G>A (p.Val175Ile)
NM_019109.5(ALG1):c.540-19T>A
NM_019109.5(ALG1):c.559C>T (p.Arg187Cys)
NM_019109.5(ALG1):c.562C>A (p.Leu188Met)
NM_019109.5(ALG1):c.602A>C (p.Glu201Ala)
NM_019109.5(ALG1):c.611C>T (p.Ala204Val)
NM_019109.5(ALG1):c.629+12T>A
NM_019109.5(ALG1):c.646G>A (p.Asp216Asn)
NM_019109.5(ALG1):c.653C>A (p.Pro218His)
NM_019109.5(ALG1):c.662T>C (p.Phe221Ser)
NM_019109.5(ALG1):c.69G>C (p.Trp23Cys)
NM_019109.5(ALG1):c.733A>G (p.Arg245Gly)
NM_019109.5(ALG1):c.741-9C>T
NM_019109.5(ALG1):c.775G>A (p.Ala259Thr)
NM_019109.5(ALG1):c.788G>A (p.Arg263Gln) rs1308969550
NM_019109.5(ALG1):c.78G>C (p.Trp26Cys)
NM_019109.5(ALG1):c.835C>G (p.Leu279Val) rs1057520106
NM_019109.5(ALG1):c.838C>A (p.Leu280Met)
NM_019109.5(ALG1):c.878C>G (p.Ser293Cys) rs1421613066
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu) rs753600353
NM_019109.5(ALG1):c.920T>C (p.Leu307Pro)
NM_019109.5(ALG1):c.935_936inv (p.Leu312Gln)
NM_019109.5(ALG1):c.943C>G (p.Leu315Val)

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