ClinVar Miner

List of variants in gene ASS1 reported as uncertain significance for Citrullinemia type I

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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
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.*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.333C>T (p.Ala111=) rs141568959 0.00031
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr) rs145100866 0.00028
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.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.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.295G>A (p.Ala99Thr) rs150466363 0.00006
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln) rs373239430 0.00006
NM_054012.4(ASS1):c.1004G>A (p.Arg335His) rs555388438 0.00005
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) rs771640767 0.00005
NM_054012.4(ASS1):c.142A>G (p.Arg48Gly) rs374695792 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_054012.3(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.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.772G>A (p.Ala258Thr) rs765748014 0.00003
NM_054012.4(ASS1):c.786C>T (p.Gly262=) rs536799104 0.00003
NM_054012.4(ASS1):c.*129C>T rs886063533 0.00002
NM_054012.4(ASS1):c.490G>A (p.Ala164Thr) rs201445618 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.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.1173C>A (p.Phe391Leu) rs1554725724 0.00001
NM_054012.4(ASS1):c.174+11G>A rs771403927 0.00001
NM_054012.4(ASS1):c.247T>C (p.Tyr83His) rs753659761 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.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.712G>A (p.Val238Ile) rs368414392 0.00001
NM_054012.4(ASS1):c.771C>T (p.Val257=) rs547904731 0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln) rs775163147 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_054012.3(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.105+5G>A rs1329809424
NM_054012.4(ASS1):c.1067G>T (p.Gly356Val) rs1261110148
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg) rs2131869276
NM_054012.4(ASS1):c.1208_1213del (p.His403_Arg404del) rs1554725909
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.216C>G (p.Phe72Leu) rs1554982824
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_054012.4(ASS1):c.294C>A (p.Ile98=) rs183370361
NM_054012.4(ASS1):c.314T>G (p.Ile105Ser) rs1845505181
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.363G>A (p.Lys121=) rs2131874200
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.406_414del (p.Ala136_Gln138del) rs1554983716
NM_054012.4(ASS1):c.439A>C (p.Met147Leu) rs2131882521
NM_054012.4(ASS1):c.515C>T (p.Pro172Leu) rs372078387
NM_054012.4(ASS1):c.557T>G (p.Met186Arg) rs1564151430
NM_054012.4(ASS1):c.590A>G (p.Asn197Ser)
NM_054012.4(ASS1):c.598-2_599dup rs1554723138
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.748C>T (p.Leu250Phe) rs772369785
NM_054012.4(ASS1):c.773+4_773+31dup rs768271017
NM_054012.4(ASS1):c.827T>C (p.Met276Thr) rs1365759588
NM_054012.4(ASS1):c.846C>T (p.Tyr282=) rs549085827
NM_054012.4(ASS1):c.931C>G (p.Gln311Glu)
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.991T>C (p.Cys331Arg) rs1055308437

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