ClinVar Miner

List of variants studied for inherited Creutzfeldt-Jakob disease

Included ClinVar conditions (2):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000311.5(PRNP):c.*115G>A rs746943389 0.00014
NM_000311.5(PRNP):c.306G>A (p.Pro102=) rs370426100 0.00012
NM_000311.5(PRNP):c.159C>T (p.Gly53=) rs776188950 0.00004
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.498G>A (p.Met166Ile) rs745480639 0.00002
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407 0.00002
NM_000311.5(PRNP):c.636G>A (p.Gln212=) rs757784308 0.00002
NM_000311.5(PRNP):c.695T>G (p.Met232Arg) rs74315409 0.00002
NM_000311.5(PRNP):c.443G>A (p.Arg148His) rs181348299 0.00001
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) rs193922906
NM_000311.3(PRNP):c.[385A>G;532G>A]
NM_000311.5(PRNP):c.154_177[6_13] rs193922906
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) rs28933385
NM_000311.5(PRNP):c.631G>C (p.Glu211Gln) rs398122370

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