ClinVar Miner

List of variants studied for Gerstmann-Straussler-Scheinker syndrome by OMIM

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
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.313C>T (p.Pro105Ser) rs74315414
NM_000311.5(PRNP):c.314C>T (p.Pro105Leu) rs11538758
NM_000311.5(PRNP):c.350C>T (p.Ala117Val) rs74315402
NM_000311.5(PRNP):c.392G>T (p.Gly131Val) rs74315410
NM_000311.5(PRNP):c.398C>T (p.Ala133Val) rs74315415
NM_000311.5(PRNP):c.435T>G (p.Tyr145Ter) rs80356710
NM_000311.5(PRNP):c.478C>T (p.Gln160Ter) rs80356711
NM_000311.5(PRNP):c.489C>G (p.Tyr163Ter) rs1555782101
NM_000311.5(PRNP):c.560A>G (p.His187Arg) rs74315413
NM_000311.5(PRNP):c.593T>C (p.Phe198Ser) rs74315405
NM_000311.5(PRNP):c.633G>C (p.Glu211Asp) rs398122413
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg) rs74315406
NM_000311.5(PRNP):c.678C>A (p.Tyr226Ter) rs398122414
NM_000311.5(PRNP):c.679C>T (p.Gln227Ter) rs17852079

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