ClinVar Miner

List of variants in gene ALG9 studied for ALG9 congenital disorder of glycosylation

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Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP gnomAD frequency
NC_000011.9:g.111742146del rs10708475 1.00000
NM_024740.2(ALG9):c.*2473A>T rs2554994 0.69652
NM_024740.2(ALG9):c.1602+10449A>G rs610437 0.63674
NM_024740.2(ALG9):c.132-12dup rs1555157381 0.46207
NM_024740.2(ALG9):c.865G>A (p.Val289Ile) rs10502151 0.28588
NM_024740.2(ALG9):c.*2474A>T rs376483443 0.04275
NM_024740.2(ALG9):c.*1848G>A rs45620134 0.03051
NM_024740.2(ALG9):c.406-7C>T rs45574638 0.02566
NM_024740.2(ALG9):c.*1220C>T rs114406340 0.01795
NM_024740.2(ALG9):c.*1671T>C rs116003998 0.01295
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_024740.2(ALG9):c.132-17T>G rs782169051 0.00984
NM_024740.2(ALG9):c.132-13T>G rs72994380 0.00979
NM_024740.2(ALG9):c.*1607C>T rs117488631 0.00826
NM_024740.2(ALG9):c.*3750A>C rs114397288 0.00792
NM_024740.2(ALG9):c.1473-14T>C rs187507214 0.00657
NM_024740.2(ALG9):c.*1680G>T rs563719515 0.00575
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_024740.2(ALG9):c.*1624A>C rs117091304 0.00485
NM_024740.2(ALG9):c.*2230A>C rs116530919 0.00264
NM_024740.2(ALG9):c.*3471A>G rs186742619 0.00264
NM_024740.2(ALG9):c.132-16T>G rs781960988 0.00248
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760 0.00238
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys) rs145762575 0.00235
NM_024740.2(ALG9):c.*2743T>C rs139048490 0.00222
NM_024740.2(ALG9):c.*1722C>T rs186477879 0.00192
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_024740.2(ALG9):c.*3423T>C rs78243190 0.00176
NM_024740.2(ALG9):c.1603-509A>G rs115136012 0.00163
NM_024740.2(ALG9):c.790-11C>T rs188241987 0.00152
NM_024740.2(ALG9):c.*3519C>A rs569799426 0.00145
NM_024740.2(ALG9):c.1792T>C (p.Tyr598His) rs201194863 0.00128
NM_024740.2(ALG9):c.*1420C>G rs143933458 0.00121
NM_024740.2(ALG9):c.*3757T>C rs530143933 0.00093
NM_024740.2(ALG9):c.*971C>T rs140187723 0.00090
NM_024740.2(ALG9):c.*3175G>A rs146182772 0.00078
NM_024740.2(ALG9):c.*314G>A rs781928817 0.00077
NM_024740.2(ALG9):c.1762G>T (p.Val588Phe) rs150225347 0.00071
NM_024740.2(ALG9):c.945T>C (p.Asn315=) rs185555263 0.00062
NM_024740.2(ALG9):c.*823A>G rs528387467 0.00058
NM_024740.2(ALG9):c.405+7G>A rs372345664 0.00053
NM_024740.2(ALG9):c.537C>T (p.Leu179=) rs199614437 0.00046
NM_024740.2(ALG9):c.*1977A>G rs181231005 0.00043
NM_024740.2(ALG9):c.1332C>T (p.His444=) rs139516254 0.00036
NM_024740.2(ALG9):c.*2114C>T rs45452093 0.00034
NM_024740.2(ALG9):c.*2287A>G rs185264895 0.00034
NM_024740.2(ALG9):c.*2414T>G rs189536081 0.00034
NM_024740.2(ALG9):c.*1536T>C rs782678326 0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_024740.2(ALG9):c.1659C>T (p.Pro553=) rs2276263 0.00031
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser) rs200946042 0.00026
NM_024740.2(ALG9):c.1489A>G (p.Ile497Val) rs138584071 0.00025
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp) rs199995104 0.00025
NM_024740.2(ALG9):c.*2472T>A rs886047667 0.00023
NM_024740.2(ALG9):c.*2457G>T rs201995459 0.00022
NM_024740.2(ALG9):c.*3213G>A rs939244636 0.00021
NM_024740.2(ALG9):c.*1832A>C rs772136205 0.00017
NM_024740.2(ALG9):c.1356A>G (p.Glu452=) rs200460892 0.00015
NM_024740.2(ALG9):c.1314A>G (p.Ala438=) rs201611208 0.00013
NM_024740.2(ALG9):c.*906C>A rs147670080 0.00010
NM_024740.2(ALG9):c.-58A>G rs782440068 0.00010
NM_024740.2(ALG9):c.789+11T>G rs371939356 0.00010
NM_024740.2(ALG9):c.*2233A>G rs886047674 0.00009
NM_024740.2(ALG9):c.*229A>G rs781789551 0.00009
NM_024740.2(ALG9):c.*2907A>T rs782731018 0.00008
NM_024740.2(ALG9):c.132-18T>G rs528601164 0.00008
NM_024740.2(ALG9):c.1785T>C (p.Tyr595=) rs374817147 0.00007
NM_024740.2(ALG9):c.*305C>T rs782183793 0.00006
NM_024740.2(ALG9):c.*523T>C rs536072357 0.00006
NM_024740.2(ALG9):c.1533A>G (p.Glu511=) rs377345625 0.00006
NM_024740.2(ALG9):c.765G>A (p.Ser255=) rs372338362 0.00006
NM_024740.2(ALG9):c.790-4T>C rs534732271 0.00006
NM_024740.2(ALG9):c.896-3C>T rs782063335 0.00005
NM_024740.2(ALG9):c.*4141G>C rs541035545 0.00004
NM_024740.2(ALG9):c.*763T>C rs886047680 0.00004
NM_024740.2(ALG9):c.1038G>A (p.Pro346=) rs372262029 0.00004
NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp) rs782084496 0.00004
NM_024740.2(ALG9):c.246T>C (p.Asp82=) rs782243361 0.00004
NM_024740.2(ALG9):c.405+8C>A rs559793984 0.00004
NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys) rs121908023 0.00004
NM_024740.2(ALG9):c.*1687A>T rs367569393 0.00003
NM_024740.2(ALG9):c.*2339T>G rs886047673 0.00003
NM_024740.2(ALG9):c.*306G>A rs886047683 0.00003
NM_024740.2(ALG9):c.*773A>G rs886047679 0.00003
NM_024740.2(ALG9):c.477-15T>C rs782507133 0.00003
NM_024740.2(ALG9):c.504C>T (p.His168=) rs782753981 0.00003
NM_024740.2(ALG9):c.*1311A>G rs912924184 0.00002
NM_024740.2(ALG9):c.188A>G (p.Lys63Arg) rs781991188 0.00002
NM_024740.2(ALG9):c.388A>G (p.Ile130Val) rs782298472 0.00002
NM_024740.2(ALG9):c.*2342G>A rs532591210 0.00001
NM_024740.2(ALG9):c.*3079C>T rs886047660 0.00001
NM_024740.2(ALG9):c.*3125A>T rs547384257 0.00001
NM_024740.2(ALG9):c.*3212C>T rs528920657 0.00001
NM_024740.2(ALG9):c.*365A>G rs886047682 0.00001
NM_024740.2(ALG9):c.*726C>G rs1414677485 0.00001
NM_024740.2(ALG9):c.*77G>A rs984910253 0.00001
NM_024740.2(ALG9):c.*788A>G rs559698025 0.00001
NM_024740.2(ALG9):c.1134T>A (p.Leu378=) rs1375163899 0.00001
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val) rs1555122792 0.00001
NM_024740.2(ALG9):c.1251G>A (p.Ser417=) rs782372397 0.00001
NM_024740.2(ALG9):c.132-14T>G rs782251612 0.00001
NM_024740.2(ALG9):c.132-15T>G rs782361758 0.00001
NM_024740.2(ALG9):c.1325-11C>G rs200609727 0.00001
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter) rs782775735 0.00001
NM_024740.2(ALG9):c.1384A>G (p.Ile462Val) rs782350313 0.00001
NM_024740.2(ALG9):c.1392T>A (p.Thr464=) rs1461283997 0.00001
NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr) rs541537158 0.00001
NM_024740.2(ALG9):c.326A>G (p.Tyr109Cys) rs782251524 0.00001
NM_024740.2(ALG9):c.535C>T (p.Leu179Phe) rs782147690 0.00001
NM_024740.2(ALG9):c.566-1G>A rs782379446 0.00001
NM_024740.2(ALG9):c.879T>G (p.His293Gln) rs1285072714 0.00001
ALG9, GLU359LYS
NM_024740.2(ALG9):c.*1297A>G rs577487864
NM_024740.2(ALG9):c.*1766A>G rs886047676
NM_024740.2(ALG9):c.*243G>A rs886047684
NM_024740.2(ALG9):c.*2443T>A rs146821834
NM_024740.2(ALG9):c.*2592T>C rs886047661
NM_024740.2(ALG9):c.*2597G>C rs1591752692
NM_024740.2(ALG9):c.*2648G>A rs1946165207
NM_024740.2(ALG9):c.*3798A>G rs1946041440
NM_024740.2(ALG9):c.*532C>T rs886047681
NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)
NM_024740.2(ALG9):c.1018+19G>A
NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)
NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)
NM_024740.2(ALG9):c.1091A>G (p.Gln364Arg) rs1956094478
NM_024740.2(ALG9):c.1173+18G>A
NM_024740.2(ALG9):c.1174-19T>G
NM_024740.2(ALG9):c.1174-5A>T
NM_024740.2(ALG9):c.1177A>C (p.Ser393Arg)
NM_024740.2(ALG9):c.1197A>G (p.Lys399=)
NM_024740.2(ALG9):c.1212G>T (p.Val404=)
NM_024740.2(ALG9):c.1226G>T (p.Arg409Leu) rs929508101
NM_024740.2(ALG9):c.1296dup (p.Phe433fs)
NM_024740.2(ALG9):c.1317G>C (p.Leu439=)
NM_024740.2(ALG9):c.132-13_132-12insTG
NM_024740.2(ALG9):c.132-13_132-12insTTG
NM_024740.2(ALG9):c.132-13del
NM_024740.2(ALG9):c.132-19T>G
NM_024740.2(ALG9):c.132-20T>G
NM_024740.2(ALG9):c.1320C>T (p.Phe440=)
NM_024740.2(ALG9):c.1324+10C>T
NM_024740.2(ALG9):c.1324+6T>G
NM_024740.2(ALG9):c.1325-17A>G
NM_024740.2(ALG9):c.1350T>C (p.Tyr450=)
NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)
NM_024740.2(ALG9):c.1364G>A (p.Arg455Gln)
NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)
NM_024740.2(ALG9):c.1377C>T (p.Asp459=) rs2136830008
NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile)
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys) rs782023699
NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys)
NM_024740.2(ALG9):c.141G>A (p.Gly47=)
NM_024740.2(ALG9):c.1431A>G (p.Lys477=)
NM_024740.2(ALG9):c.1441C>T (p.Arg481Ter)
NM_024740.2(ALG9):c.1460T>C (p.Leu487Pro) rs2136827755
NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)
NM_024740.2(ALG9):c.1500G>A (p.Glu500=)
NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)
NM_024740.2(ALG9):c.1567A>G (p.Met523Val)
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) rs121908022
NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)
NM_024740.2(ALG9):c.1602+12A>G
NM_024740.2(ALG9):c.1602+14del
NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) rs12575909
NM_024740.2(ALG9):c.1644C>G (p.Thr548=)
NM_024740.2(ALG9):c.1645A>G (p.Met549Val)
NM_024740.2(ALG9):c.1665G>A (p.Glu555=)
NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)
NM_024740.2(ALG9):c.171A>G (p.Glu57=)
NM_024740.2(ALG9):c.1733+19A>G
NM_024740.2(ALG9):c.1733+9C>T
NM_024740.2(ALG9):c.1734-15T>C
NM_024740.2(ALG9):c.1734-16dup
NM_024740.2(ALG9):c.1734-17del
NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)
NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)
NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala)
NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) rs1555064204
NM_024740.2(ALG9):c.1819C>T (p.Arg607Trp)
NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)
NM_024740.2(ALG9):c.218C>T (p.Ala73Val)
NM_024740.2(ALG9):c.222C>T (p.Leu74=)
NM_024740.2(ALG9):c.270+17G>C
NM_024740.2(ALG9):c.271-10G>A
NM_024740.2(ALG9):c.279C>T (p.Tyr93=)
NM_024740.2(ALG9):c.294A>G (p.Glu98=)
NM_024740.2(ALG9):c.360T>C (p.His120=)
NM_024740.2(ALG9):c.405+13C>G
NM_024740.2(ALG9):c.405+9A>T
NM_024740.2(ALG9):c.414G>A (p.Val138=)
NM_024740.2(ALG9):c.417T>A (p.Phe139Leu)
NM_024740.2(ALG9):c.430T>C (p.Cys144Arg)
NM_024740.2(ALG9):c.482T>C (p.Val161Ala)
NM_024740.2(ALG9):c.546C>A (p.Gly182=)
NM_024740.2(ALG9):c.551T>G (p.Phe184Cys)
NM_024740.2(ALG9):c.596C>G (p.Thr199Ser)
NM_024740.2(ALG9):c.691G>A (p.Ala231Thr)
NM_024740.2(ALG9):c.702-11C>T
NM_024740.2(ALG9):c.702-9_702-8del
NM_024740.2(ALG9):c.739A>G (p.Arg247Gly)
NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)
NM_024740.2(ALG9):c.754_757del (p.Phe252fs)
NM_024740.2(ALG9):c.790-20T>C
NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)
NM_024740.2(ALG9):c.816C>T (p.Tyr272=)
NM_024740.2(ALG9):c.846C>T (p.Leu282=)
NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)
NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)
NM_024740.2(ALG9):c.895+11G>A
NM_024740.2(ALG9):c.896-2A>G
NM_024740.2(ALG9):c.910T>C (p.Tyr304His)
NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)
NM_024740.2(ALG9):c.966C>T (p.Leu322=)
NM_024740.2(ALG9):c.992del (p.Met331fs) rs2136936118

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