ClinVar Miner

List of variants reported as uncertain significance for ALG8-congenital disorder of glycosylation

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.96-6G>C rs199911532 0.00160
NM_024079.5(ALG8):c.675T>C (p.Asp225=) rs139106381 0.00138
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033 0.00041
NM_024079.5(ALG8):c.1506C>T (p.Gly502=) rs148820351 0.00031
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_024079.5(ALG8):c.154A>G (p.Ile52Val) rs138293432 0.00019
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg) rs141068538 0.00019
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr) rs149692072 0.00011
NM_024079.5(ALG8):c.1349+5T>C rs886048685 0.00007
NM_024079.5(ALG8):c.-7C>T rs542407081 0.00006
NM_024079.5(ALG8):c.984C>A (p.Val328=) rs757467776 0.00006
NM_024079.5(ALG8):c.228T>C (p.Tyr76=) rs371862915 0.00005
NM_024079.5(ALG8):c.1091G>A (p.Arg364Gln) rs766238263 0.00004
NM_024079.5(ALG8):c.337A>G (p.Met113Val) rs140499974 0.00004
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser) rs758154434 0.00004
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro) rs558379335 0.00003
NM_024079.5(ALG8):c.-5C>T rs886048689 0.00002
NM_024079.5(ALG8):c.616G>A (p.Ala206Thr) rs769894472 0.00002
NM_024079.5(ALG8):c.897C>T (p.Ile299=) rs886048686 0.00002
NM_024079.5(ALG8):c.1256C>T (p.Pro419Leu) rs1859926872 0.00001
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.1556C>T (p.Ala519Val) rs990677542 0.00001
NM_024079.5(ALG8):c.346C>T (p.Leu116Phe) rs1401833410 0.00001
NM_024079.5(ALG8):c.382A>G (p.Ile128Val) rs111831728 0.00001
NM_024079.5(ALG8):c.439G>T (p.Val147Leu) rs748027702 0.00001
NM_024079.5(ALG8):c.479-3C>G rs753257659 0.00001
NM_024079.5(ALG8):c.623C>T (p.Ala208Val) rs886048688 0.00001
NM_024079.5(ALG8):c.678G>T (p.Gly226=) rs754476593 0.00001
NM_024079.5(ALG8):c.86T>C (p.Ile29Thr) rs1276719307 0.00001
NM_024079.5(ALG8):c.1028T>C (p.Ile343Thr)
NM_024079.5(ALG8):c.103A>G (p.Thr35Ala)
NM_024079.5(ALG8):c.1123A>G (p.Met375Val)
NM_024079.5(ALG8):c.115G>T (p.Val39Leu)
NM_024079.5(ALG8):c.1162G>C (p.Ala388Pro)
NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile)
NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln)
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met) rs376704970
NM_024079.5(ALG8):c.1298_1334dup (p.Leu445_Lys446insHisValThrIleHisHisIleTer)
NM_024079.5(ALG8):c.1301T>G (p.Met434Arg)
NM_024079.5(ALG8):c.1328C>T (p.Ser443Leu)
NM_024079.5(ALG8):c.1347C>T (p.Phe449=)
NM_024079.5(ALG8):c.1369A>G (p.Asn457Asp) rs2136868764
NM_024079.5(ALG8):c.136A>G (p.Ile46Val)
NM_024079.5(ALG8):c.1393C>T (p.Leu465Phe) rs2136868701
NM_024079.5(ALG8):c.1429G>C (p.Val477Leu) rs769413308
NM_024079.5(ALG8):c.143A>G (p.His48Arg) rs1861126453
NM_024079.5(ALG8):c.1463C>G (p.Pro488Arg) rs758549233
NM_024079.5(ALG8):c.1511C>G (p.Thr504Arg) rs2136868362
NM_024079.5(ALG8):c.1540G>A (p.Val514Ile)
NM_024079.5(ALG8):c.191C>T (p.Thr64Met)
NM_024079.5(ALG8):c.19G>A (p.Ala7Thr) rs1861709687
NM_024079.5(ALG8):c.230T>C (p.Ile77Thr)
NM_024079.5(ALG8):c.320G>T (p.Arg107Ile)
NM_024079.5(ALG8):c.364C>T (p.Arg122Cys)
NM_024079.5(ALG8):c.389G>A (p.Gly130Glu)
NM_024079.5(ALG8):c.438G>A (p.Ser146=)
NM_024079.5(ALG8):c.441A>T (p.Val147=) rs112109685
NM_024079.5(ALG8):c.446T>C (p.Leu149Pro)
NM_024079.5(ALG8):c.478+6C>T
NM_024079.5(ALG8):c.482T>C (p.Ile161Thr)
NM_024079.5(ALG8):c.517A>G (p.Met173Val) rs146425128
NM_024079.5(ALG8):c.52G>T (p.Ala18Ser)
NM_024079.5(ALG8):c.552G>T (p.Arg184Ser)
NM_024079.5(ALG8):c.554A>G (p.His185Arg)
NM_024079.5(ALG8):c.568T>G (p.Phe190Val) rs1860461907
NM_024079.5(ALG8):c.588A>G (p.Leu196=) rs562915665
NM_024079.5(ALG8):c.608T>G (p.Leu203Arg)
NM_024079.5(ALG8):c.622G>A (p.Ala208Thr)
NM_024079.5(ALG8):c.644G>A (p.Arg215Gln)
NM_024079.5(ALG8):c.647C>G (p.Ser216Cys) rs886048687
NM_024079.5(ALG8):c.671C>A (p.Pro224Gln)
NM_024079.5(ALG8):c.674-20A>C
NM_024079.5(ALG8):c.709C>T (p.Arg237Cys)
NM_024079.5(ALG8):c.743T>C (p.Val248Ala)
NM_024079.5(ALG8):c.757T>G (p.Leu253Val)
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr) rs1860433537
NM_024079.5(ALG8):c.793G>A (p.Val265Ile)
NM_024079.5(ALG8):c.799T>C (p.Ser267Pro)
NM_024079.5(ALG8):c.808T>C (p.Phe270Leu)
NM_024079.5(ALG8):c.824G>T (p.Gly275Val)
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser) rs1565349263
NM_024079.5(ALG8):c.859G>A (p.Ala287Thr)
NM_024079.5(ALG8):c.899-13A>T
NM_024079.5(ALG8):c.903G>C (p.Leu301Phe)
NM_024079.5(ALG8):c.922C>T (p.Pro308Ser)
NM_024079.5(ALG8):c.96-9T>G
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
NM_024079.5(ALG8):c.982G>A (p.Val328Ile) rs2136891638

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