ClinVar Miner

List of variants studied for inborn disorder of serine family metabolism by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_003038.5(SLC1A4):c.925G>T (p.Gly309Ter)
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr) rs201553627
NM_006623.4(PHGDH):c.511-5A>G

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