ClinVar Miner

List of variants reported as likely pathogenic for Citrullinemia type I

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ClinVar version:
Total variants: 70
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HGVS dbSNP
NC_000009.12:g.(?_130479706)_(130480459_?)del
NC_000009.12:g.(?_130489323)_(130489474_?)del
NM_000050.4(ASS1):c.366delG rs1057516544
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_054012.4(ASS1):c.1075del (p.Tyr359fs) rs1588508532
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
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.1157_1158del (p.Thr386fs)
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile) rs1474017319
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_054012.4(ASS1):c.173dup (p.Val59fs) rs1554982243
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_054012.4(ASS1):c.175-1119G>A
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.256C>T (p.Arg86Cys) rs121908644
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_054012.4(ASS1):c.262del (p.Leu88fs) rs1588475891
NM_054012.4(ASS1):c.291C>A (p.Cys97Ter) rs1554982847
NM_054012.4(ASS1):c.319del (p.Gln107fs) rs1564903969
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877
NM_054012.4(ASS1):c.350G>A (p.Gly117Asp) rs745404241
NM_054012.4(ASS1):c.364-2A>T
NM_054012.4(ASS1):c.379C>G (p.Arg127Gly) rs771794639
NM_054012.4(ASS1):c.3G>A (p.Met1Ile) rs1057516960
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter) rs1057516339
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
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.495+1G>C
NM_054012.4(ASS1):c.495+1G>T
NM_054012.4(ASS1):c.496-2A>G rs398123130
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646
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.53C>T (p.Ser18Leu) rs121908643
NM_054012.4(ASS1):c.559_566+13del rs1554722453
NM_054012.4(ASS1):c.567-1G>T rs1057517259
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127
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.759C>A (p.Tyr253Ter) rs1588495489
NM_054012.4(ASS1):c.773+1G>A rs982830431
NM_054012.4(ASS1):c.773+49C>T rs763389916
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_054012.4(ASS1):c.823G>T (p.Gly275Ter) rs1554723625
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106
NM_054012.4(ASS1):c.838+1G>T rs750214431
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys) rs765338121
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308
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.970G>A (p.Gly324Ser) rs121908639
NM_054012.4(ASS1):c.971-1G>A rs1554725033
NM_054012.4(ASS1):c.978del (p.Trp326fs) rs1057516338

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