ClinVar Miner

List of variants reported as likely pathogenic for Citrullinemia type I

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Total variants: 51
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HGVS dbSNP
NM_000050.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537
NM_000050.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_000050.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_000050.4(ASS1):c.1127+1G>A rs1057517402
NM_000050.4(ASS1):c.1138C>T (p.Gln380Ter) rs786204460
NM_000050.4(ASS1):c.1139delA (p.Gln380Argfs) rs1213378896
NM_000050.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_000050.4(ASS1):c.1194-1G>C rs727503814
NM_000050.4(ASS1):c.173dup (p.Val59Glyfs) rs1554982243
NM_000050.4(ASS1):c.174+1G>T
NM_000050.4(ASS1):c.175-1G>A rs1554982809
NM_000050.4(ASS1):c.1A>G (p.Met1Val) rs750780742
NM_000050.4(ASS1):c.226delG (p.Ala76Profs) rs1057516648
NM_000050.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644
NM_000050.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_000050.4(ASS1):c.291C>A (p.Cys97Ter) rs1554982847
NM_000050.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877
NM_000050.4(ASS1):c.366delG (p.Asn123Thrfs) rs1057516544
NM_000050.4(ASS1):c.3G>A (p.Met1Ile) rs1057516960
NM_000050.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_000050.4(ASS1):c.412C>T (p.Gln138Ter) rs1057516339
NM_000050.4(ASS1):c.412dup (p.Gln138Profs) rs1554983717
NM_000050.4(ASS1):c.420+1G>A rs1554983719
NM_000050.4(ASS1):c.450_451delCT (p.Phe150Leufs) rs786204648
NM_000050.4(ASS1):c.496-2A>G rs398123130
NM_000050.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_000050.4(ASS1):c.559_566+13del21 rs1554722453
NM_000050.4(ASS1):c.567-1G>T rs1057517259
NM_000050.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000
NM_000050.4(ASS1):c.688+1_688+5del5 rs1554723160
NM_000050.4(ASS1):c.689G>C (p.Gly230Ala) rs1085307056
NM_000050.4(ASS1):c.773+1G>A rs982830431
NM_000050.4(ASS1):c.773+49C>T rs763389916
NM_000050.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_000050.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_000050.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_000050.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_000050.4(ASS1):c.823G>T (p.Gly275Ter) rs1554723625
NM_000050.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645
NM_000050.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106
NM_000050.4(ASS1):c.838+1G>T rs750214431
NM_000050.4(ASS1):c.847G>A (p.Glu283Lys) rs765338121
NM_000050.4(ASS1):c.892delG (p.Glu298Argfs) rs770362721
NM_000050.4(ASS1):c.931C>T (p.Gln311Ter) rs1301613270
NM_000050.4(ASS1):c.951delT (p.Phe317Leufs) rs775791516
NM_000050.4(ASS1):c.970+1G>A rs1396766124
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000050.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639
NM_000050.4(ASS1):c.971-1G>A rs1554725033
NM_000050.4(ASS1):c.978delG (p.Trp326Cysfs) rs1057516338
NM_000050.4:c.460_467delTTCAAGGG

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