ClinVar Miner

List of variants studied for Huntington disease-like 1 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.32909
NM_000311.5(PRNP):c.351A>G (p.Ala117=) rs8124214 0.04369
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_000311.5(PRNP):c.424G>A (p.Gly142Ser) rs150351644 0.00451
NM_000311.5(PRNP):c.204T>C (p.Pro68=) rs532493114 0.00252
NM_000311.5(PRNP):c.372C>G (p.Gly124=) rs201423990 0.00213
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) rs1800014 0.00092
NM_000311.5(PRNP):c.246A>G (p.Gly82=) rs62643364 0.00023
NM_000311.5(PRNP):c.160G>A (p.Gly54Ser) rs763524380 0.00020
NM_000311.5(PRNP):c.603C>T (p.Thr201=) rs145556589 0.00019
NM_000311.5(PRNP):c.120G>A (p.Gly40=) rs202102378 0.00018
NM_000311.5(PRNP):c.306G>A (p.Pro102=) rs370426100 0.00011
NM_000311.5(PRNP):c.563C>T (p.Thr188Met) rs372878791 0.00009
NM_000311.5(PRNP):c.519C>T (p.Asn173=) rs149726579 0.00007
NM_000311.5(PRNP):c.606C>T (p.Asp202=) rs371948269 0.00006
NM_000311.5(PRNP):c.159C>T (p.Gly53=) rs776188950 0.00005
NM_000311.5(PRNP):c.228C>T (p.Pro76=) rs112637437 0.00005
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00005
NM_000311.5(PRNP):c.700C>T (p.Leu234Phe) rs536371371 0.00005
NM_000311.5(PRNP):c.117G>A (p.Pro39=) rs771206868 0.00004
NM_000311.5(PRNP):c.393A>G (p.Gly131=) rs772735889 0.00004
NM_000311.5(PRNP):c.531C>T (p.His177=) rs200294214 0.00004
NM_000311.5(PRNP):c.564G>A (p.Thr188=) rs201447742 0.00004
NM_000311.5(PRNP):c.623G>A (p.Arg208His) rs74315412 0.00004
NM_000311.5(PRNP):c.654C>T (p.Tyr218=) rs375057882 0.00004
NM_000311.5(PRNP):c.225G>A (p.Gln75=) rs776922173 0.00003
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.624C>T (p.Arg208=) rs539013899 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.333C>T (p.His111=) rs772899097 0.00002
NM_000311.5(PRNP):c.423C>T (p.Phe141=) rs764920854 0.00002
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.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.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.366G>T (p.Val122=) rs757409258 0.00001
NM_000311.5(PRNP):c.402G>C (p.Met134Ile) rs1922434948 0.00001
NM_000311.5(PRNP):c.441C>T (p.Asp147=) rs1436968066 0.00001
NM_000311.5(PRNP):c.443G>A (p.Arg148His) rs181348299 0.00001
NM_000311.5(PRNP):c.537C>T (p.Cys179=) rs755183662 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.6G>A (p.Ala2=) rs1405257982 0.00001
NM_000311.5(PRNP):c.749T>C (p.Leu250Pro) rs1412795882 0.00001
NC_000020.10:g.(?_1959939)_(6760201_?)dup
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) rs193922906
NM_000311.5(PRNP):c.138C>T (p.Gly46=) rs2514372230
NM_000311.5(PRNP):c.162T>C (p.Gly54=)
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.228_251del (p.60PHGGGWGQ[3]) rs765275434
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3]) rs138688873
NM_000311.5(PRNP):c.278G>A (p.Gly93Asp) rs2514373224
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_000311.5(PRNP):c.325A>T (p.Met109Leu)
NM_000311.5(PRNP):c.33C>T (p.Leu11=)
NM_000311.5(PRNP):c.350_351inv (p.Ala117Val)
NM_000311.5(PRNP):c.384_385inv (p.Met129Val)
NM_000311.5(PRNP):c.392G>T (p.Gly131Val) rs74315410
NM_000311.5(PRNP):c.407G>C (p.Arg136Thr) rs145555096
NM_000311.5(PRNP):c.408G>A (p.Arg136=) rs146315846
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.478C>T (p.Gln160Ter) rs80356711
NM_000311.5(PRNP):c.480A>G (p.Gln160=) rs1922447173
NM_000311.5(PRNP):c.487T>C (p.Tyr163His) rs921542806
NM_000311.5(PRNP):c.507C>T (p.Tyr169=) rs769447986
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) rs74315403
NM_000311.5(PRNP):c.547A>G (p.Thr183Ala) rs74315411
NM_000311.5(PRNP):c.54C>T (p.Asp18=) rs548116564
NM_000311.5(PRNP):c.563C>G (p.Thr188Arg) rs372878791
NM_000311.5(PRNP):c.576C>T (p.Thr192=)
NM_000311.5(PRNP):c.57G>A (p.Leu19=) rs1490413413
NM_000311.5(PRNP):c.591C>T (p.Asn197=) rs1163717358
NM_000311.5(PRNP):c.593T>C (p.Phe198Ser) rs74315405
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) rs28933385
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.650A>G (p.Gln217Arg) rs74315406
NM_000311.5(PRNP):c.654C>G (p.Tyr218Ter) rs375057882
NM_000311.5(PRNP):c.666T>G (p.Ser222=)
NM_000311.5(PRNP):c.674A>G (p.Tyr225Cys) rs748929962
NM_000311.5(PRNP):c.684A>G (p.Arg228=)
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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