ClinVar Miner

List of variants studied for epilepsy, early-onset, vitamin B6-dependent by New York Genome Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_007198.4(PLPBP):c.613C>T (p.Arg205Trp) rs1384327533 0.00001
NM_007198.4(PLPBP):c.793G>A (p.Val265Met) rs1442084545 0.00001
NM_007198.4(PLPBP):c.86C>T (p.Ala29Val) rs1021675702 0.00001

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