ClinVar Miner

List of variants in gene PRNP reported as uncertain significance for Huntington disease-like 1

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.*115G>A rs746943389 0.00012
NM_000311.5(PRNP):c.563C>T (p.Thr188Met) rs372878791 0.00009
NM_000311.5(PRNP):c.505T>C (p.Tyr169His) rs1057343224 0.00003
NM_000311.5(PRNP):c.50G>C (p.Ser17Thr) rs368154579 0.00003
NM_000311.5(PRNP):c.5C>T (p.Ala2Val) rs748227837 0.00003
NM_000311.5(PRNP):c.635A>C (p.Gln212Pro) rs751882709 0.00003
NM_000311.5(PRNP):c.74G>A (p.Arg25His) rs146939732 0.00003
NM_000311.5(PRNP):c.462G>A (p.Met154Ile) rs144302267 0.00002
NM_000311.5(PRNP):c.493C>T (p.Pro165Ser) rs770422749 0.00002
NM_000311.5(PRNP):c.498G>A (p.Met166Ile) rs745480639 0.00002
NM_000311.5(PRNP):c.695T>G (p.Met232Arg) rs74315409 0.00002
NM_000311.5(PRNP):c.116C>T (p.Pro39Leu) rs747019990 0.00001
NM_000311.5(PRNP):c.143G>A (p.Arg48His) rs945136467 0.00001
NM_000311.5(PRNP):c.290G>A (p.Ser97Asn) rs56362942 0.00001
NM_000311.5(PRNP):c.402G>C (p.Met134Ile) rs1922434948 0.00001
NM_000311.5(PRNP):c.546C>G (p.Ile182Met) rs753015009 0.00001
NM_000311.5(PRNP):c.622C>T (p.Arg208Cys) rs55826236 0.00001
NM_000311.5(PRNP):c.625G>A (p.Val209Met) rs758820257 0.00001
NM_000311.5(PRNP):c.749T>C (p.Leu250Pro) rs1412795882 0.00001
NM_000311.5(PRNP):c.180_227del (p.60_67PHGGGWGQ[2]) rs193922906
NM_000311.5(PRNP):c.222_245del (p.60PHGGGWGQ[3]) rs754362804
NM_000311.5(PRNP):c.227_228insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGln) rs193922906
NM_000311.5(PRNP):c.278G>A (p.Gly93Asp) rs2514373224
NM_000311.5(PRNP):c.325A>T (p.Met109Leu)
NM_000311.5(PRNP):c.407G>C (p.Arg136Thr) rs145555096
NM_000311.5(PRNP):c.408G>T (p.Arg136Ser) rs146315846
NM_000311.5(PRNP):c.446dup (p.Tyr149Ter) rs2514373887
NM_000311.5(PRNP):c.451C>T (p.Arg151Cys) rs755417301
NM_000311.5(PRNP):c.452G>A (p.Arg151His) rs779113268
NM_000311.5(PRNP):c.452G>T (p.Arg151Leu) rs779113268
NM_000311.5(PRNP):c.487T>C (p.Tyr163His) rs921542806
NM_000311.5(PRNP):c.620A>G (p.Glu207Gly) rs2122230388
NM_000311.5(PRNP):c.633G>C (p.Glu211Asp) rs398122413
NM_000311.5(PRNP):c.654C>G (p.Tyr218Ter) rs375057882
NM_000311.5(PRNP):c.674A>G (p.Tyr225Cys) rs748929962
NM_000311.5(PRNP):c.715C>T (p.Pro239Ser) rs1191139947
NM_000311.5(PRNP):c.755T>C (p.Val252Ala) rs2122231287
NM_000311.5(PRNP):c.86G>A (p.Gly29Glu) rs989264799

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