List of variants in gene PHGDH reported as uncertain significance for Neu-Laxova syndrome 1

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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: 34

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HGVS	dbSNP	gnomAD frequency
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)	rs139063843	0.00083
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)	rs587731325	0.00026
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys)	rs140979375	0.00019
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val)	rs201782441	0.00013
NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser)	rs141662984	0.00011
NM_006623.4(PHGDH):c.689G>A (p.Arg230His)	rs777155018	0.00011
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile)	rs200037593	0.00009
NM_006623.4(PHGDH):c.181G>A (p.Ala61Thr)	rs140185619	0.00008
NM_006623.4(PHGDH):c.910G>A (p.Val304Met)	rs149175408	0.00007
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)	rs145344767	0.00006
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys)	rs147066269	0.00006
NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln)	rs375031910	0.00006
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr)	rs142988234	0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val)	rs587648058	0.00005
NM_006623.4(PHGDH):c.946G>A (p.Val316Met)	rs146398308	0.00005
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp)	rs142622658	0.00003
NM_006623.4(PHGDH):c.932C>T (p.Ser311Phe)	rs143340742	0.00003
NM_006623.4(PHGDH):c.1096G>T (p.Ala366Ser)	rs138515760	0.00002
NM_006623.4(PHGDH):c.1285G>C (p.Gly429Arg)	rs145854744	0.00002
NM_006623.4(PHGDH):c.1406G>A (p.Arg469Gln)	rs139764141	0.00002
NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys)	rs139129607	0.00002
NM_006623.4(PHGDH):c.119A>G (p.Glu40Gly)	rs778630047	0.00001
NM_006623.4(PHGDH):c.1209+4C>T	rs199611972	0.00001
NM_006623.4(PHGDH):c.1534T>G (p.Ser512Ala)	rs375098288	0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp)	rs772067625	0.00001
NM_006623.4(PHGDH):c.566A>C (p.Gln189Pro)	rs750124525	0.00001
NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr)	rs201553627
NM_006623.4(PHGDH):c.214G>A (p.Val72Met)	rs958052810
NM_006623.4(PHGDH):c.391G>A (p.Gly131Ser)
NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly)	rs1448633854
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly)	rs756996899
NM_006623.4(PHGDH):c.743C>A (p.Ala248Asp)	rs201782441
NM_006623.4(PHGDH):c.87G>T (p.Gln29His)

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