List of variants in gene PTDSS1 reported as uncertain significance for Inborn genetic diseases

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_014754.3(PTDSS1):c.706G>A (p.Val236Ile)	rs368785037	0.00005
NM_014754.3(PTDSS1):c.418G>A (p.Ala140Thr)	rs769835679	0.00003
NM_014754.3(PTDSS1):c.920T>G (p.Leu307Trp)	rs757267921	0.00003
NM_014754.3(PTDSS1):c.926A>G (p.His309Arg)	rs373266938	0.00003
NM_014754.3(PTDSS1):c.1214A>G (p.Tyr405Cys)	rs916463087	0.00001
NM_014754.3(PTDSS1):c.1408G>A (p.Val470Ile)	rs748159287	0.00001
NM_014754.3(PTDSS1):c.685G>A (p.Gly229Ser)	rs1209769402	0.00001
NM_014754.3(PTDSS1):c.1060T>C (p.Cys354Arg)	rs1811177590
NM_014754.3(PTDSS1):c.1171G>C (p.Val391Leu)	rs781468003
NM_014754.3(PTDSS1):c.1202G>C (p.Gly401Ala)
NM_014754.3(PTDSS1):c.1229G>A (p.Gly410Asp)
NM_014754.3(PTDSS1):c.252T>G (p.Ser84Arg)
NM_014754.3(PTDSS1):c.5C>A (p.Ala2Glu)
NM_014754.3(PTDSS1):c.738C>G (p.His246Gln)	rs1017730495
NM_014754.3(PTDSS1):c.767C>T (p.Thr256Ile)	rs2488153566
NM_014754.3(PTDSS1):c.874C>T (p.Leu292Phe)	rs2130109010
NM_014754.3(PTDSS1):c.902A>T (p.Glu301Val)	rs1351847405
NM_014754.3(PTDSS1):c.910A>T (p.Thr304Ser)
NM_014754.3(PTDSS1):c.946A>C (p.Ser316Arg)	rs2488158743

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