List of variants in gene PHGDH reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)	rs267606948	0.00002
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)	rs121907988	0.00001
NM_006623.4(PHGDH):c.1211T>A (p.Val404Asp)
NM_006623.4(PHGDH):c.1286G>T (p.Gly429Val)	rs1652276195
NM_006623.4(PHGDH):c.138+2dup	rs1650723432
NM_006623.4(PHGDH):c.1A>C (p.Met1Leu)
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)	rs267606949
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)	rs587777770
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)	rs587777483
NM_006623.4(PHGDH):c.714del (p.Ile239fs)	rs730882181
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)	rs267606947
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys)	rs587777774
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)	rs587777775

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