ClinVar Miner

List of variants in gene ASS1 reported as likely pathogenic for Citrullinemia type I

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Gene type:
ClinVar version:
Total variants: 115
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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.19G>A (p.Val7Met) rs149938546 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_054012.4(ASS1):c.773C>T (p.Ala258Val) rs753078725 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.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.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.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.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.256C>T (p.Arg86Cys) rs121908644 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 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.577G>A (p.Gly193Arg) rs1311437424 0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127 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.970+5G>A rs372128852 0.00001
NC_000009.12:g.(?_130479706)_(130480459_?)del
NC_000009.12:g.(?_130489323)_(130489474_?)del
NM_000050.4(ASS1):c.366delG rs1057516544
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.1075del (p.Tyr359fs) rs1588508532
NM_054012.4(ASS1):c.1127+1G>A rs1057517402
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter) rs786204460
NM_054012.4(ASS1):c.1139del (p.Gln380fs) rs1213378896
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.130_132delinsA (p.Phe44fs)
NM_054012.4(ASS1):c.173dup (p.Val59fs) rs1554982243
NM_054012.4(ASS1):c.174+1G>C
NM_054012.4(ASS1):c.175-1G>A rs1554982809
NM_054012.4(ASS1):c.1A>G (p.Met1Val) rs750780742
NM_054012.4(ASS1):c.226del (p.Ala76fs) rs1057516648
NM_054012.4(ASS1):c.246del (p.Tyr83fs)
NM_054012.4(ASS1):c.262del (p.Leu88fs) rs1588475891
NM_054012.4(ASS1):c.269G>A (p.Gly90Asp)
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.319del (p.Gln107fs) rs1564903969
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.364-2A>T rs774231051
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.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.431C>G (p.Pro144Arg)
NM_054012.4(ASS1):c.432_433del (p.Trp145fs)
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.493A>T (p.Lys165Ter)
NM_054012.4(ASS1):c.496-2A>G rs398123130
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.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.620_622delinsCT (p.Tyr207fs)
NM_054012.4(ASS1):c.620_622delinsT (p.Tyr207fs)
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.759C>A (p.Tyr253Ter) rs1588495489
NM_054012.4(ASS1):c.773+1G>A rs982830431
NM_054012.4(ASS1):c.773+4A>C
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>T (p.Arg272Leu)
NM_054012.4(ASS1):c.823G>T (p.Gly275Ter) rs1554723625
NM_054012.4(ASS1):c.830_831del (p.Lys277fs) rs2118841816
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.904A>G (p.Met302Val) rs1846391609
NM_054012.4(ASS1):c.907del (p.Asp303fs)
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter) rs1301613270
NM_054012.4(ASS1):c.951del (p.Phe317fs) rs775791516
NM_054012.4(ASS1):c.970+1G>A rs1396766124
NM_054012.4(ASS1):c.971-1G>A rs1554725033
NM_054012.4(ASS1):c.978del (p.Trp326fs) rs1057516338
NM_054012.4(ASS1):c.992_997delinsA (p.Cys331fs)

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