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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_054012.4(ASS1):c.805G>A (p.Val269Met)	rs370595480	0.00007
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.1075T>C (p.Tyr359His)	rs1262020902	0.00001
NM_054012.4(ASS1):c.206T>C (p.Val69Ala)	rs771594651	0.00001
NM_054012.4(ASS1):c.689-2A>C	rs374586230	0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)	rs775163147	0.00001
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile)	rs886039853	0.00001
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)	rs121908648	0.00001
NC_000009.11:g.(?_133340833)_(133342151_?)del
NC_000009.11:g.(?_133346211)_(133346912_?)del
NC_000009.11:g.(?_133346862)_(133346912_?)dup
NC_000009.12:g.(?_130489323)_(130489474_?)del
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)	rs121908640
NM_054012.4(ASS1):c.1130T>C (p.Met377Thr)
NM_054012.4(ASS1):c.1157_1158del (p.Thr386fs)	rs1846687897
NM_054012.4(ASS1):c.1194-19_1197dup
NM_054012.4(ASS1):c.214T>A (p.Phe72Ile)
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr)	rs2131874080
NM_054012.4(ASS1):c.363+1G>A
NM_054012.4(ASS1):c.364-2A>T	rs774231051
NM_054012.4(ASS1):c.379C>G (p.Arg127Gly)	rs771794639
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)	rs201623252
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)	rs786204648
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)	rs969835605
NM_054012.4(ASS1):c.495+1G>C	rs1845754405
NM_054012.4(ASS1):c.495+1G>T	rs1845754405
NM_054012.4(ASS1):c.495+2T>C	rs2131882609
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile)	rs121908638
NM_054012.4(ASS1):c.688+1G>C
NM_054012.4(ASS1):c.688+2T>C	rs2118832404
NM_054012.4(ASS1):c.688+2del	rs2118832409
NM_054012.4(ASS1):c.774-2A>G	rs1588496214
NM_054012.4(ASS1):c.839-2A>T	rs2118864015
NM_054012.4(ASS1):c.95_105+4del
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)	rs1554725034

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