List of variants in gene ASS1 reported as uncertain significance 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.1134C>T (p.Asn378=)	rs140715869	0.00094
NM_054012.4(ASS1):c.765C>T (p.Asn255=)	rs375579096	0.00020
NM_054012.4(ASS1):c.805G>A (p.Val269Met)	rs370595480	0.00007
NM_054012.4(ASS1):c.470G>A (p.Arg157His)	rs121908637	0.00006
NM_054012.4(ASS1):c.421-8A>C	rs764424984	0.00004
NM_054012.4(ASS1):c.920G>A (p.Arg307His)	rs571576756	0.00002
NM_054012.4(ASS1):c.893A>G (p.Glu298Gly)	rs372061654	0.00001
NM_054012.4(ASS1):c.1196T>G (p.Leu399Arg)	rs758372973
NM_054012.4(ASS1):c.355A>C (p.Thr119Pro)	rs794727696
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)	rs376371866
NM_054012.4(ASS1):c.914A>T (p.Glu305Val)	rs398123132
NM_054012.4(ASS1):c.961G>A (p.Val321Met)	rs727503813

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