ClinVar Miner

List of variants studied for paroxysmal nonkinesigenic dyskinesia 1 by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala) rs202190131 0.00006
NM_015488.5(PNKD):c.301C>T (p.Arg101Trp) rs533033409 0.00004
NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp) rs185906233
NM_015488.5(PNKD):c.293G>T (p.Arg98Leu) rs201495280
NM_015488.5(PNKD):c.465+3G>A rs1313298373

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