ClinVar Miner

List of variants studied for Inherited Creutzfeldt-Jakob disease by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.623G>A (p.Arg208His) rs74315412 0.00004
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407 0.00002
NM_000311.5(PRNP):c.695T>G (p.Met232Arg) rs74315409 0.00002
NM_000311.3(PRNP):c.[385A>G;532G>A]
NM_000311.5(PRNP):c.154_177[6_13] rs193922906
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) rs28933385
NM_000311.5(PRNP):c.631G>C (p.Glu211Gln) rs398122370

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