ClinVar Miner

List of variants reported as likely benign for ALG9 congenital disorder of glycosylation

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ClinVar version:
Total variants: 240
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HGVS dbSNP gnomAD frequency
NM_024740.2(ALG9):c.132-12dup rs1555157381 0.46207
NM_024740.2(ALG9):c.*1220C>T rs114406340 0.01795
NM_024740.2(ALG9):c.*3750A>C rs114397288 0.00792
NM_024740.2(ALG9):c.132-16T>G rs781960988 0.00248
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.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_024740.2(ALG9):c.1792T>C (p.Tyr598His) rs201194863 0.00128
NM_024740.2(ALG9):c.*971C>T rs140187723 0.00090
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly) rs141467923 0.00087
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu) rs146967928 0.00078
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.405+7G>A rs372345664 0.00053
NM_024740.2(ALG9):c.537C>T (p.Leu179=) rs199614437 0.00046
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075 0.00045
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426 0.00034
NM_012463.4(ATP6V0A2):c.1936-7C>T rs370135665 0.00028
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_012463.4(ATP6V0A2):c.1039-13G>T rs375793162 0.00019
NM_024740.2(ALG9):c.1356A>G (p.Glu452=) rs200460892 0.00015
NM_012463.4(ATP6V0A2):c.117+19A>T rs746099453 0.00013
NM_024740.2(ALG9):c.1314A>G (p.Ala438=) rs201611208 0.00013
NM_012463.4(ATP6V0A2):c.1935+8A>G rs377650732 0.00010
NM_024740.2(ALG9):c.789+11T>G rs371939356 0.00010
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=) rs373155729 0.00009
NM_012463.4(ATP6V0A2):c.197-4A>G rs541441279 0.00009
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=) rs149439834 0.00008
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=) rs142041624 0.00008
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_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr) rs199801221 0.00005
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=) rs373419502 0.00005
NM_024740.2(ALG9):c.896-3C>T rs782063335 0.00005
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser) rs771839087 0.00004
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=) rs775345155 0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_024740.2(ALG9):c.1038G>A (p.Pro346=) rs372262029 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_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=) rs917452697 0.00003
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) rs759980365 0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G rs201512900 0.00003
NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=) rs149123235 0.00003
NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=) rs753589480 0.00003
NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=) rs375372808 0.00003
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=) rs762290613 0.00003
NM_012463.4(ATP6V0A2):c.521+14C>T rs747194853 0.00003
NM_012463.4(ATP6V0A2):c.621G>A (p.Leu207=) rs374338507 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 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_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=) rs202084330 0.00002
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=) rs759226841 0.00002
NM_012463.4(ATP6V0A2):c.2250C>T (p.Thr750=) rs759193879 0.00002
NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=) rs1308437998 0.00002
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=) rs1337898685 0.00002
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=) rs571286312 0.00002
NM_012463.4(ATP6V0A2):c.521+17G>A rs192339944 0.00002
NM_012463.4(ATP6V0A2):c.1038+19C>T rs748475567 0.00001
NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=) rs751710968 0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) rs985944979 0.00001
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=) rs567406924 0.00001
NM_012463.4(ATP6V0A2):c.1605+13C>T rs1031913267 0.00001
NM_012463.4(ATP6V0A2):c.1724+20T>A rs778282853 0.00001
NM_012463.4(ATP6V0A2):c.18G>A (p.Arg6=) rs1274398806 0.00001
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) rs775830030 0.00001
NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=) rs1485624455 0.00001
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=) rs754399086 0.00001
NM_012463.4(ATP6V0A2):c.819C>G (p.Leu273=) rs760832828 0.00001
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=) rs776563027 0.00001
NM_024740.2(ALG9):c.1134T>A (p.Leu378=) rs1375163899 0.00001
NM_024740.2(ALG9):c.1251G>A (p.Ser417=) rs782372397 0.00001
NM_024740.2(ALG9):c.1392T>A (p.Thr464=) rs1461283997 0.00001
NM_012463.4(ATP6V0A2):c.102G>T (p.Leu34=)
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del
NM_012463.4(ATP6V0A2):c.1039-13G>A rs375793162
NM_012463.4(ATP6V0A2):c.1039-15T>C
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=) rs1593910063
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=)
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=)
NM_012463.4(ATP6V0A2):c.117+10G>A
NM_012463.4(ATP6V0A2):c.117+13C>T
NM_012463.4(ATP6V0A2):c.117+18_117+19del rs772260989
NM_012463.4(ATP6V0A2):c.117+19A>G
NM_012463.4(ATP6V0A2):c.117+20C>G
NM_012463.4(ATP6V0A2):c.117+20_117+21insT
NM_012463.4(ATP6V0A2):c.117+7G>A
NM_012463.4(ATP6V0A2):c.117+9C>A
NM_012463.4(ATP6V0A2):c.118-13A>G
NM_012463.4(ATP6V0A2):c.118-4T>C
NM_012463.4(ATP6V0A2):c.118-9T>G
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=) rs1171365721
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)
NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=)
NM_012463.4(ATP6V0A2):c.1326+7A>C
NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup rs1593910803
NM_012463.4(ATP6V0A2):c.1353G>A (p.Arg451=)
NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=)
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)
NM_012463.4(ATP6V0A2):c.1437C>T (p.Phe479=)
NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=)
NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=)
NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=)
NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=)
NM_012463.4(ATP6V0A2):c.1515-7_1515-5del
NM_012463.4(ATP6V0A2):c.1515-9T>C
NM_012463.4(ATP6V0A2):c.1515-9T>G
NM_012463.4(ATP6V0A2):c.1605+10C>T
NM_012463.4(ATP6V0A2):c.1605+16T>G rs532950608
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=)
NM_012463.4(ATP6V0A2):c.1674A>G (p.Leu558=)
NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=)
NM_012463.4(ATP6V0A2):c.1692T>G (p.Thr564=) rs2135913544
NM_012463.4(ATP6V0A2):c.1724+11A>T
NM_012463.4(ATP6V0A2):c.1725-9C>T
NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=)
NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=)
NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=)
NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=)
NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=) rs776365183
NM_012463.4(ATP6V0A2):c.1863C>T (p.Pro621=) rs2135914630
NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=) rs1593915216
NM_012463.4(ATP6V0A2):c.1932G>A (p.Gly644=)
NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=)
NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=)
NM_012463.4(ATP6V0A2):c.196+8T>A
NM_012463.4(ATP6V0A2):c.197-14T>A
NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup
NM_012463.4(ATP6V0A2):c.2055+8C>T
NM_012463.4(ATP6V0A2):c.2055+9G>A
NM_012463.4(ATP6V0A2):c.2056-10T>C
NM_012463.4(ATP6V0A2):c.2056-14C>G rs375232199
NM_012463.4(ATP6V0A2):c.2056-14C>T
NM_012463.4(ATP6V0A2):c.2056-18_2056-17del
NM_012463.4(ATP6V0A2):c.2056-20T>C
NM_012463.4(ATP6V0A2):c.2067A>G (p.Thr689=)
NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=)
NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=)
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)
NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=)
NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)
NM_012463.4(ATP6V0A2):c.2294-12A>G
NM_012463.4(ATP6V0A2):c.2328C>T (p.Arg776=)
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)
NM_012463.4(ATP6V0A2):c.2465+20T>C
NM_012463.4(ATP6V0A2):c.2466-10T>G
NM_012463.4(ATP6V0A2):c.2466-16C>G
NM_012463.4(ATP6V0A2):c.2466-16C>T
NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA
NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)
NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=)
NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)
NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=) rs1032324166
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.294+16C>A
NM_012463.4(ATP6V0A2):c.294+16C>T
NM_012463.4(ATP6V0A2):c.294+17G>A
NM_012463.4(ATP6V0A2):c.294+18A>G
NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)
NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)
NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.433-5T>C
NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=)
NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=)
NM_012463.4(ATP6V0A2):c.63G>T (p.Thr21=)
NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=)
NM_012463.4(ATP6V0A2):c.648+13C>T
NM_012463.4(ATP6V0A2):c.649-15A>G
NM_012463.4(ATP6V0A2):c.649-20T>C
NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=) rs767516975
NM_012463.4(ATP6V0A2):c.72G>A (p.Glu24=)
NM_012463.4(ATP6V0A2):c.731+12A>G
NM_012463.4(ATP6V0A2):c.731+16A>G
NM_012463.4(ATP6V0A2):c.744C>T (p.His248=)
NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)
NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=)
NM_012463.4(ATP6V0A2):c.81C>T (p.Ser27=)
NM_012463.4(ATP6V0A2):c.826-14T>G rs2135901661
NM_012463.4(ATP6V0A2):c.826-15G>A
NM_012463.4(ATP6V0A2):c.826-18C>G
NM_012463.4(ATP6V0A2):c.826-20C>T
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=)
NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=)
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)
NM_012463.4(ATP6V0A2):c.90C>G (p.Gly30=)
NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=) rs2135901865
NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=)
NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=)
NM_024740.2(ALG9):c.114C>G (p.Gly38=)
NM_024740.2(ALG9):c.1173+18G>A
NM_024740.2(ALG9):c.1174-5A>T
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro) rs781880611
NM_024740.2(ALG9):c.131+10C>T
NM_024740.2(ALG9):c.131+7G>C
NM_024740.2(ALG9):c.132-13_132-12insTTG
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.1350T>C (p.Tyr450=)
NM_024740.2(ALG9):c.1377C>T (p.Asp459=) rs2136830008
NM_024740.2(ALG9):c.141G>A (p.Gly47=)
NM_024740.2(ALG9):c.1500G>A (p.Glu500=)
NM_024740.2(ALG9):c.1567A>G (p.Met523Val)
NM_024740.2(ALG9):c.1644C>G (p.Thr548=)
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.270+17G>C
NM_024740.2(ALG9):c.271-10G>A
NM_024740.2(ALG9):c.27C>T (p.Arg9=)
NM_024740.2(ALG9):c.294A>G (p.Glu98=)
NM_024740.2(ALG9):c.405+9A>T
NM_024740.2(ALG9):c.414G>A (p.Val138=)
NM_024740.2(ALG9):c.546C>A (p.Gly182=)
NM_024740.2(ALG9):c.702-9_702-8del
NM_024740.2(ALG9):c.790-20T>C
NM_024740.2(ALG9):c.846C>T (p.Leu282=)

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