Variants in gene ASS1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 8

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HGVS	dbSNP	gnomAD frequency
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)	rs183276875	0.00009
NM_054012.4(ASS1):c.805G>A (p.Val269Met)	rs370595480	0.00007
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	rs121908643	0.00001
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)	rs121908648	0.00001
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)	rs35269064
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)	rs771794639
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)	rs201623252
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)	rs376371866

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