ClinVar Miner

List of variants in gene ASS1 studied for Citrullinemia type I

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.597+81A>G rs641510 0.91777
NM_054012.4(ASS1):c.838+38A>G rs1215940 0.89625
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
NM_054012.4(ASS1):c.566+88C>T rs493389 0.59097
NM_054012.4(ASS1):c.597+178G>A rs486889 0.57370
NM_054012.4(ASS1):c.105+115G>A rs1615006 0.56622
NM_054012.4(ASS1):c.175-1233G>A rs1215988 0.32238
NM_000050.4(ASS1):c.-323G>T rs2071367 0.18565
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_054012.4(ASS1):c.174+21A>G rs73541961 0.05590
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_054012.4(ASS1):c.496-36C>T rs12343715 0.04390
NM_054012.4(ASS1):c.175-1129A>G rs59227343 0.02410
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_054012.4(ASS1):c.-5-1883C>T rs12004384 0.01076
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_054012.4(ASS1):c.622A>G (p.Thr208Ala) rs62637575 0.00277
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_054012.4(ASS1):c.420+13T>G rs201883474 0.00099
NM_054012.4(ASS1):c.1134C>T (p.Asn378=) rs140715869 0.00094
NM_054012.4(ASS1):c.*223A>T rs187259733 0.00080
NM_054012.4(ASS1):c.*55A>C rs191668957 0.00051
NM_054012.4(ASS1):c.175-16G>T rs373936572 0.00045
NM_054012.3(ASS1):c.-286_-285insT rs886063525 0.00044
NM_054012.4(ASS1):c.411C>T (p.Pro137=) rs139250536 0.00034
NM_054012.4(ASS1):c.333C>T (p.Ala111=) rs141568959 0.00031
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr) rs145100866 0.00028
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_054012.4(ASS1):c.240C>T (p.Ser80=) rs147910468 0.00023
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_054012.4(ASS1):c.710A>G (p.Asn237Ser) rs565520844 0.00021
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_054012.4(ASS1):c.174+4C>A rs368133957 0.00016
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) rs145288815 0.00014
NM_054012.4(ASS1):c.351C>T (p.Gly117=) rs2228429 0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=) rs201905628 0.00014
NM_054012.4(ASS1):c.241G>A (p.Ala81Thr) rs141640176 0.00013
NM_054012.4(ASS1):c.549G>A (p.Glu183=) rs747401210 0.00013
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met) rs149938546 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_054012.4(ASS1):c.1056C>T (p.Ser352=) rs766889925 0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val) rs753078725 0.00008
NM_054012.4(ASS1):c.174+10G>A rs371597908 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_054012.3(ASS1):c.-242G>C rs567339064 0.00006
NM_054012.4(ASS1):c.*58C>T rs183494785 0.00006
NM_054012.4(ASS1):c.1047G>T (p.Val349=) rs376502913 0.00006
NM_054012.4(ASS1):c.295G>A (p.Ala99Thr) rs150466363 0.00006
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln) rs373239430 0.00006
NM_054012.4(ASS1):c.470G>A (p.Arg157His) rs121908637 0.00006
NM_054012.4(ASS1):c.1004G>A (p.Arg335His) rs555388438 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) rs771640767 0.00005
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_054012.4(ASS1):c.142A>G (p.Arg48Gly) rs374695792 0.00004
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr) rs775305020 0.00004
NM_054012.4(ASS1):c.469C>T (p.Arg157Cys) rs770585183 0.00004
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu) rs768846877 0.00004
NM_054012.4(ASS1):c.564C>T (p.Ile188=) rs2297599 0.00004
NM_054012.4(ASS1):c.566+11C>T rs200527708 0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys) rs765338121 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_054012.3(ASS1):c.-101C>G rs886063531 0.00003
NM_054012.3(ASS1):c.-278G>T rs563156422 0.00003
NM_054012.4(ASS1):c.*110C>T rs893210689 0.00003
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126 0.00003
NM_054012.4(ASS1):c.151G>A (p.Ala51Thr) rs142350255 0.00003
NM_054012.4(ASS1):c.175-4G>A rs370817871 0.00003
NM_054012.4(ASS1):c.190G>A (p.Val64Ile) rs556297791 0.00003
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys) rs370695114 0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000 0.00003
NM_054012.4(ASS1):c.772G>A (p.Ala258Thr) rs765748014 0.00003
NM_054012.4(ASS1):c.786C>T (p.Gly262=) rs536799104 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_054012.4(ASS1):c.*129C>T rs886063533 0.00002
NM_054012.4(ASS1):c.1194-1G>C rs727503814 0.00002
NM_054012.4(ASS1):c.294C>T (p.Ile98=) rs183370361 0.00002
NM_054012.4(ASS1):c.490G>A (p.Ala164Thr) rs201445618 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_054012.4(ASS1):c.920G>A (p.Arg307His) rs571576756 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_054012.4(ASS1):c.930A>G (p.Lys310=) rs200219927 0.00002
NM_054012.4(ASS1):c.-5-10C>G rs375136377 0.00001
NM_054012.4(ASS1):c.-5-12G>A rs770116104 0.00001
NM_054012.4(ASS1):c.1014C>T (p.Ile338=) rs749554993 0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537 0.00001
NM_054012.4(ASS1):c.1051G>A (p.Val351Met) rs773909247 0.00001
NM_054012.4(ASS1):c.1053G>A (p.Val351=) rs761241799 0.00001
NM_054012.4(ASS1):c.1074G>A (p.Val358=) rs1256882753 0.00001
NM_054012.4(ASS1):c.1083C>T (p.Leu361=) rs78564724 0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610 0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724 0.00001
NM_054012.4(ASS1):c.174+11G>A rs771403927 0.00001
NM_054012.4(ASS1):c.174+1G>T rs748264993 0.00001
NM_054012.4(ASS1):c.175-1119G>A rs1488840592 0.00001
NM_054012.4(ASS1):c.206T>C (p.Val69Ala) rs771594651 0.00001
NM_054012.4(ASS1):c.247T>C (p.Tyr83His) rs753659761 0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644 0.00001
NM_054012.4(ASS1):c.257G>A (p.Arg86His) rs575001023 0.00001
NM_054012.4(ASS1):c.261C>T (p.Tyr87=) rs749648285 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 0.00001
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn) rs936192871 0.00001
NM_054012.4(ASS1):c.380G>A (p.Arg127Gln) rs201623252 0.00001
NM_054012.4(ASS1):c.39C>T (p.Gly13=) rs769672308 0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643 0.00001
NM_054012.4(ASS1):c.556A>G (p.Met186Val) rs1845851030 0.00001
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg) rs1311437424 0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127 0.00001
NM_054012.4(ASS1):c.689-2A>C rs374586230 0.00001
NM_054012.4(ASS1):c.711C>T (p.Asn237=) rs779981831 0.00001
NM_054012.4(ASS1):c.712G>A (p.Val238Ile) rs368414392 0.00001
NM_054012.4(ASS1):c.771C>T (p.Val257=) rs547904731 0.00001
NM_054012.4(ASS1):c.773+49C>T rs763389916 0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys) rs148918985 0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln) rs775163147 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_054012.4(ASS1):c.838+1G>T rs750214431 0.00001
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile) rs886039853 0.00001
NM_054012.4(ASS1):c.892G>A (p.Glu298Lys) rs1372482894 0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00001
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln) rs121908648 0.00001
NM_054012.4(ASS1):c.965A>G (p.Tyr322Cys) rs373473841 0.00001
NM_054012.4(ASS1):c.969C>T (p.Thr323=) rs756487535 0.00001
NM_054012.4(ASS1):c.970+4C>T rs1460424492 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NC_000009.12:g.(?_130452214)_(130454383_?)del
NC_000009.12:g.(?_130458401)_(130458589_?)del
NC_000009.12:g.(?_130464091)_(130464187_?)del
NC_000009.12:g.(?_130479706)_(130480459_?)del
NC_000009.12:g.(?_130489323)_(130489474_?)del
NG_011542.1:g.(18884_24404)_(24462_27018)del
NM_000050.4(ASS1):c.366delG rs1057516544
NM_000050.4(ASS1):c.[323G>T];[970+5G>A]
NM_000050.4:c.(174+1_175-1)_(363+1_364-1)del
NM_054012.3(ASS1):c.-300G>C rs928360571
NM_054012.4(ASS1):c.*225_*228del rs886063534
NM_054012.4(ASS1):c.*244T>C rs1846749628
NM_054012.4(ASS1):c.-5-172T>C rs1760275
NM_054012.4(ASS1):c.1018A>T (p.Lys340Ter) rs2118880170
NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter)
NM_054012.4(ASS1):c.1047del (p.Gln350fs)
NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter) rs2118880266
NM_054012.4(ASS1):c.105+5G>A rs1329809424
NM_054012.4(ASS1):c.1067G>T (p.Gly356Val) rs1261110148
NM_054012.4(ASS1):c.1075del (p.Tyr359fs) rs1588508532
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) rs121908647
NM_054012.4(ASS1):c.1127+1G>A rs1057517402
NM_054012.4(ASS1):c.1128-6_1188dup rs1554725677
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter) rs786204460
NM_054012.4(ASS1):c.1139del (p.Gln380fs) rs1213378896
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg) rs2131869276
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile) rs1474017319
NM_054012.4(ASS1):c.1193+1G>T
NM_054012.4(ASS1):c.119A>T (p.Gln40Leu)
NM_054012.4(ASS1):c.1208_1213del (p.His403_Arg404del) rs1554725909
NM_054012.4(ASS1):c.130_132delinsA (p.Phe44fs)
NM_054012.4(ASS1):c.14G>C (p.Gly5Ala) rs201700775
NM_054012.4(ASS1):c.160C>G (p.Leu54Val) rs1564902078
NM_054012.4(ASS1):c.173dup (p.Val59fs) rs1554982243
NM_054012.4(ASS1):c.174+1G>A rs748264993
NM_054012.4(ASS1):c.174+1G>C
NM_054012.4(ASS1):c.175-1G>A rs1554982809
NM_054012.4(ASS1):c.175-2A>G
NM_054012.4(ASS1):c.1A>G (p.Met1Val) rs750780742
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu) rs1554982824
NM_054012.4(ASS1):c.226del (p.Ala76fs) rs1057516648
NM_054012.4(ASS1):c.246del (p.Tyr83fs)
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_054012.4(ASS1):c.262del (p.Leu88fs) rs1588475891
NM_054012.4(ASS1):c.269G>A (p.Gly90Asp)
NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)
NM_054012.4(ASS1):c.285del (p.Arg95fs)
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr) rs2131874080
NM_054012.4(ASS1):c.291C>A (p.Cys97Ter) rs1554982847
NM_054012.4(ASS1):c.294C>A (p.Ile98=) rs183370361
NM_054012.4(ASS1):c.299del (p.Arg100fs)
NM_054012.4(ASS1):c.314T>G (p.Ile105Ser) rs1845505181
NM_054012.4(ASS1):c.319del (p.Gln107fs) rs1564903969
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.350G>A (p.Gly117Asp) rs745404241
NM_054012.4(ASS1):c.356C>T (p.Thr119Ile) rs1845507027
NM_054012.4(ASS1):c.363G>A (p.Lys121=) rs2131874200
NM_054012.4(ASS1):c.364-2A>C
NM_054012.4(ASS1):c.364-2A>G rs774231051
NM_054012.4(ASS1):c.364-2A>T rs774231051
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp) rs771794639
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_054012.4(ASS1):c.391_398del (p.Ser131fs)
NM_054012.4(ASS1):c.3G>A (p.Met1Ile) rs1057516960
NM_054012.4(ASS1):c.401C>A (p.Ser134Ter)
NM_054012.4(ASS1):c.406_414del (p.Ala136_Gln138del) rs1554983716
NM_054012.4(ASS1):c.408C>T (p.Ala136=) rs765880041
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter) rs1057516339
NM_054012.4(ASS1):c.412del (p.Gln138fs)
NM_054012.4(ASS1):c.412dup (p.Gln138fs) rs1554983717
NM_054012.4(ASS1):c.420+1G>A rs1554983719
NM_054012.4(ASS1):c.420+1G>T rs1554983719
NM_054012.4(ASS1):c.421-2A>C rs751930594
NM_054012.4(ASS1):c.421-2A>G rs751930594
NM_054012.4(ASS1):c.431C>G (p.Pro144Arg)
NM_054012.4(ASS1):c.432_433del (p.Trp145fs)
NM_054012.4(ASS1):c.439A>C (p.Met147Leu) rs2131882521
NM_054012.4(ASS1):c.450_451del (p.Phe150fs) rs786204648
NM_054012.4(ASS1):c.460_467del (p.Phe154fs) rs1004492719
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro) rs969835605
NM_054012.4(ASS1):c.484dup (p.Glu162fs) rs1313340299
NM_054012.4(ASS1):c.493A>T (p.Lys165Ter)
NM_054012.4(ASS1):c.495+84A>C rs11243414
NM_054012.4(ASS1):c.496-2A>G rs398123130
NM_054012.4(ASS1):c.515C>T (p.Pro172Leu) rs372078387
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) rs121908638
NM_054012.4(ASS1):c.557T>G (p.Met186Arg) rs1564151430
NM_054012.4(ASS1):c.559_566+13del rs1554722453
NM_054012.4(ASS1):c.566+1G>T rs1057520659
NM_054012.4(ASS1):c.567-1G>T rs1057517259
NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)
NM_054012.4(ASS1):c.571G>T (p.Glu191Ter) rs777828000
NM_054012.4(ASS1):c.590A>G (p.Asn197Ser)
NM_054012.4(ASS1):c.597+18=
NM_054012.4(ASS1):c.598-2_599dup rs1554723138
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_054012.4(ASS1):c.620_622delinsCT (p.Tyr207fs)
NM_054012.4(ASS1):c.620_622delinsT (p.Tyr207fs)
NM_054012.4(ASS1):c.623C>G (p.Thr208Arg) rs776441071
NM_054012.4(ASS1):c.63C>A (p.Leu21=) rs774476997
NM_054012.4(ASS1):c.66del (p.Trp23fs)
NM_054012.4(ASS1):c.688+1_688+5del rs1554723160
NM_054012.4(ASS1):c.689G>C (p.Gly230Ala) rs1085307056
NM_054012.4(ASS1):c.69G>A (p.Trp23Ter)
NM_054012.4(ASS1):c.748C>T (p.Leu250Phe) rs772369785
NM_054012.4(ASS1):c.759C>A (p.Tyr253Ter) rs1588495489
NM_054012.4(ASS1):c.773+1G>A rs982830431
NM_054012.4(ASS1):c.773+23G>T rs146390729
NM_054012.4(ASS1):c.773+4A>C
NM_054012.4(ASS1):c.773+4_773+31dup rs768271017
NM_054012.4(ASS1):c.774-28G>T rs151042066
NM_054012.4(ASS1):c.774-2A>G rs1588496214
NM_054012.4(ASS1):c.774-2del
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_054012.4(ASS1):c.812dup (p.Asn271fs) rs759483921
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_054012.4(ASS1):c.815G>A (p.Arg272His) rs768215008
NM_054012.4(ASS1):c.815G>T (p.Arg272Leu)
NM_054012.4(ASS1):c.823G>T (p.Gly275Ter) rs1554723625
NM_054012.4(ASS1):c.827T>C (p.Met276Thr) rs1365759588
NM_054012.4(ASS1):c.830A>G (p.Lys277Arg) rs1846142065
NM_054012.4(ASS1):c.830_831del (p.Lys277fs) rs2118841816
NM_054012.4(ASS1):c.838+38=
NM_054012.4(ASS1):c.839-1G>A
NM_054012.4(ASS1):c.839-2A>T rs2118864015
NM_054012.4(ASS1):c.844_850del (p.Tyr282fs)
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter) rs549085827
NM_054012.4(ASS1):c.846C>T (p.Tyr282=) rs549085827
NM_054012.4(ASS1):c.848del (p.Glu283fs)
NM_054012.4(ASS1):c.904A>G (p.Met302Val) rs1846391609
NM_054012.4(ASS1):c.907del (p.Asp303fs)
NM_054012.4(ASS1):c.931C>G (p.Gln311Glu)
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter) rs1301613270
NM_054012.4(ASS1):c.951del (p.Phe317fs) rs775791516
NM_054012.4(ASS1):c.955G>A (p.Glu319Lys) rs1588503732
NM_054012.4(ASS1):c.961G>A (p.Val321Met) rs727503813
NM_054012.4(ASS1):c.970+12T>A rs886063532
NM_054012.4(ASS1):c.970+1G>A rs1396766124
NM_054012.4(ASS1):c.971-1G>A rs1554725033
NM_054012.4(ASS1):c.971G>T (p.Gly324Val) rs1554725034
NM_054012.4(ASS1):c.978del (p.Trp326fs) rs1057516338
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg) rs1055308437
NM_054012.4(ASS1):c.992_997delinsA (p.Cys331fs)

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