List of variants in gene ASS1 reported as pathogenic by Eurofins NTD LLC (GA)

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: 12

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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.787G>A (p.Val263Met)	rs192838388	0.00005
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)	rs121908640	0.00004
NM_054012.4(ASS1):c.1194-1G>C	rs727503814	0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)	rs771937610	0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)	rs148918985	0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)	rs121908642	0.00001
NM_054012.4(ASS1):c.1064del (p.Lys355fs)	rs886043088
NM_054012.4(ASS1):c.421-2A>G	rs751930594
NM_054012.4(ASS1):c.496-2A>G	rs398123130
NM_054012.4(ASS1):c.794G>A (p.Arg265His)	rs398123131

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