ClinVar Miner

List of variants studied for PHGDH deficiency by Illumina Laboratory Services, Illumina

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Total variants: 48
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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 0.62211
NC_000001.11:g.119744240A>G rs17258425 0.11740
NM_005518.4(HMGCS2):c.*332A>C rs56828380 0.02618
NM_006623.4(PHGDH):c.139-13T>C rs894078 0.01680
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01154
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01087
NM_005518.4(HMGCS2):c.*165C>T rs138575225 0.01059
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_006623.4(PHGDH):c.*151C>G rs112584109 0.00343
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu) rs151275800 0.00097
NM_006623.4(PHGDH):c.*140A>G rs587687027 0.00095
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00061
NM_006623.4(PHGDH):c.834C>A (p.Val278=) rs147866831 0.00051
NM_006623.4(PHGDH):c.*165_*166insGTAG rs140037378 0.00042
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00032
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00023
NM_006623.4(PHGDH):c.412-15C>T rs368681081 0.00021
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys) rs140979375 0.00019
NM_006623.4(PHGDH):c.-79T>C rs747803505 0.00017
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746 0.00016
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val) rs201782441 0.00013
NM_006623.4(PHGDH):c.390C>T (p.Asp130=) rs148078511 0.00012
NM_006623.4(PHGDH):c.644-12G>A rs370255821 0.00011
NM_006623.3(PHGDH):c.-183G>A rs886045202 0.00007
NM_006623.3(PHGDH):c.-207G>A rs150128831 0.00006
NM_006623.4(PHGDH):c.*28G>A rs753765228 0.00006
NM_006623.4(PHGDH):c.519G>A (p.Gly173=) rs754326499 0.00006
NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln) rs375031910 0.00006
NM_006623.4(PHGDH):c.372G>A (p.Ala124=) rs146740411 0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058 0.00005
NM_006623.3(PHGDH):c.-222G>A rs60544490 0.00004
NM_006623.4(PHGDH):c.1078+10G>T rs374994783 0.00003
NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys) rs139129607 0.00003
NM_006623.4(PHGDH):c.1285G>C (p.Gly429Arg) rs145854744 0.00002
NM_006623.4(PHGDH):c.381G>A (p.Ser127=) rs886045205 0.00001
NM_006623.3(PHGDH):c.-101G>C rs562038
NM_006623.4(PHGDH):c.*58G>C rs1652337689
NM_006623.4(PHGDH):c.*8G>A rs1652335587
NM_006623.4(PHGDH):c.-11C>T rs886045203
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=) rs144484007
NM_006623.4(PHGDH):c.138G>A (p.Gln46=) rs143217390
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly) rs756996899
NM_006623.4(PHGDH):c.507G>A (p.Met169Ile) rs1651465371
NM_006623.4(PHGDH):c.511-13T>G rs1571009081
NM_006623.4(PHGDH):c.543G>A (p.Glu181=) rs886045206
NM_006623.4(PHGDH):c.808C>T (p.Arg270Trp) rs765756881

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