List of variants in gene ASS1 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 10

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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.689-2A>C	rs374586230	0.00001
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)	rs121908640
NM_054012.4(ASS1):c.1194-19_1197dup
NM_054012.4(ASS1):c.319del (p.Gln107fs)	rs1564903969
NM_054012.4(ASS1):c.420+1G>T	rs1554983719
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.479T>C (p.Leu160Pro)	rs969835605
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)	rs1554725034

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