List of variants in gene PSAT1 reported as likely pathogenic for amino acid metabolism disease

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter)	rs199998249	0.00001
NC_000009.11:g.(?_80919631)_(80923519_?)del
NM_058179.4(PSAT1):c.121+5G>A	rs372232840
NM_058179.4(PSAT1):c.122-1G>C	rs772958302
NM_058179.4(PSAT1):c.43_60+9del
NM_058179.4(PSAT1):c.444C>A (p.Tyr148Ter)	rs148598272
NM_058179.4(PSAT1):c.570+2_570+15del	rs2118643983
NM_058179.4(PSAT1):c.571-1G>A	rs1828216198
NM_058179.4(PSAT1):c.740G>C (p.Ser247Thr)

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