ClinVar Miner

List of variants reported as benign for PHGDH deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_006623.3(PHGDH):c.-140A>G rs561931 0.61476
NM_006623.4(PHGDH):c.139-13T>C rs894078 0.01680
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01251
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_006623.3(PHGDH):c.-101G>C rs562038

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