ClinVar Miner

List of variants studied for Spongiform encephalopathy with neuropsychiatric features

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_000311.5(PRNP):c.180T>C (p.Pro60=) rs1386720703
NM_000311.5(PRNP):c.198G>A (p.Gly66=) rs750069679
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_000311.5(PRNP):c.313C>A (p.Pro105Thr) rs74315414
NM_000311.5(PRNP):c.547A>G (p.Thr183Ala) rs74315411
NM_000311.5(PRNP):c.560A>G (p.His187Arg) rs74315413

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