List of variants in gene ASS1 reported as pathogenic by GeneDx

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.1168G>A (p.Gly390Arg)	rs121908641	0.00025
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	rs121908646	0.00007
NM_054012.4(ASS1):c.787G>A (p.Val263Met)	rs192838388	0.00005
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)	rs121908640	0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs)	rs770362721	0.00004
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	rs121908644	0.00001
NM_054012.4(ASS1):c.380G>A (p.Arg127Gln)	rs201623252	0.00001
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)	rs121908647
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)	rs121908638
NM_054012.4(ASS1):c.566+1G>T	rs1057520659

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