ClinVar Miner

List of variants in gene ASS1 reported as pathogenic for Citrullinemia

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Gene type:
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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro) rs559043503 0.00008
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_054012.4(ASS1):c.470G>A (p.Arg157His) rs121908637 0.00006
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 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.847G>A (p.Glu283Lys) rs765338121 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126 0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_054012.4(ASS1):c.1194-1G>C rs727503814 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537 0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610 0.00001
NM_054012.4(ASS1):c.1117G>T (p.Glu373Ter) rs1453708640 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.256C>T (p.Arg86Cys) rs121908644 0.00001
NM_054012.4(ASS1):c.257G>A (p.Arg86His) rs575001023 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.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643 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.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_054012.4(ASS1):c.838+1G>T rs750214431 0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NC_000009.11:g.(?_133319094)_(133377661_?)del
NC_000009.11:g.(?_133333768)_(133333996_?)del
NC_000009.11:g.(?_133339488)_(133339564_?)del
NC_000009.11:g.(?_133352248)_(133352358_?)del
NC_000009.11:g.(?_133352248)_(133355846_?)del
NC_000009.11:g.(?_133355093)_(133355236_?)del
NC_000009.12:g.(?_130464091)_(130464187_?)del
NC_000009.12:g.130479718dup rs2118839419
NM_000050.4(ASS1):c.366delG rs1057516544
NM_054012.4(ASS1):c.1010_1011delinsAA (p.Cys337Ter) rs2118880115
NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter) rs2118880266
NM_054012.4(ASS1):c.1060del (p.Leu354fs)
NM_054012.4(ASS1):c.1075T>G (p.Tyr359Asp) rs1262020902
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) rs121908647
NM_054012.4(ASS1):c.1090del (p.Glu364fs)
NM_054012.4(ASS1):c.1107_1108del (p.Tyr370fs) rs2118880626
NM_054012.4(ASS1):c.1128-6_1188dup rs1554725677
NM_054012.4(ASS1):c.1128_1134delinsG (p.Ser376_Asn378delinsArg) rs1439911743
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter) rs786204460
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile) rs1474017319
NM_054012.4(ASS1):c.120del (p.Lys41fs) rs1554982237
NM_054012.4(ASS1):c.138_139del (p.Glu46fs)
NM_054012.4(ASS1):c.174+1G>A rs748264993
NM_054012.4(ASS1):c.188_189del (p.Asp63fs)
NM_054012.4(ASS1):c.199G>T (p.Glu67Ter)
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu) rs1554982824
NM_054012.4(ASS1):c.222G>A (p.Trp74Ter)
NM_054012.4(ASS1):c.241_242del (p.Ala81fs)
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)
NM_054012.4(ASS1):c.319del (p.Gln107fs) rs1564903969
NM_054012.4(ASS1):c.339T>G (p.Tyr113Ter) rs1845506282
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.373C>T (p.Gln125Ter) rs2131879687
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter) rs1057516339
NM_054012.4(ASS1):c.412dup (p.Gln138fs) rs1554983717
NM_054012.4(ASS1):c.421-2A>G rs751930594
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.463A>T (p.Lys155Ter)
NM_054012.4(ASS1):c.484dup (p.Glu162fs) rs1313340299
NM_054012.4(ASS1):c.489C>A (p.Tyr163Ter) rs377319610
NM_054012.4(ASS1):c.489C>G (p.Tyr163Ter) rs377319610
NM_054012.4(ASS1):c.490G>C (p.Ala164Pro) rs201445618
NM_054012.4(ASS1):c.536G>A (p.Trp179Ter) rs2131886482
NM_054012.4(ASS1):c.537G>A (p.Trp179Ter)
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)
NM_054012.4(ASS1):c.57C>A (p.Cys19Ter)
NM_054012.4(ASS1):c.601C>T (p.Gln201Ter)
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_054012.4(ASS1):c.611del (p.Pro204fs) rs2118832071
NM_054012.4(ASS1):c.621C>A (p.Tyr207Ter) rs2118832096
NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)
NM_054012.4(ASS1):c.687dup (p.Gly230fs)
NM_054012.4(ASS1):c.773+1G>A rs982830431
NM_054012.4(ASS1):c.773+1G>T
NM_054012.4(ASS1):c.773+4A>C
NM_054012.4(ASS1):c.774-2A>G rs1588496214
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.827_838+25del
NM_054012.4(ASS1):c.832del (p.Ser278fs) rs1846142146
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter) rs549085827
NM_054012.4(ASS1):c.919C>A (p.Arg307Ser) rs183276875
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter) rs1301613270
NM_054012.4(ASS1):c.944T>A (p.Leu315Ter) rs2118864334
NM_054012.4(ASS1):c.951del (p.Phe317fs) rs775791516
NM_054012.4(ASS1):c.971G>T (p.Gly324Val) rs1554725034
NM_054012.4(ASS1):c.978del (p.Trp326fs) rs1057516338
NM_054012.4(ASS1):c.983_984insGGTGAATTTG (p.Ser328fs)

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