List of variants in gene ASS1 reported as likely pathogenic by Natera, Inc.

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_054012.4(ASS1):c.175-1119G>A	rs1488840592	0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	rs121908636	0.00001
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)	rs1474017319
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)	rs1004492719
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile)	rs121908638
NM_054012.4(ASS1):c.839-2A>T	rs2118864015

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