ClinVar Miner

List of variants studied for hereditary spastic paraplegia 31 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
NM_001371279.1(REEP1):c.*2859T>G rs708600 0.30772
NM_001371279.1(REEP1):c.*1257C>T rs12328643 0.04200
NM_001371279.1(REEP1):c.*2825A>C rs7580424 0.03801
NM_001371279.1(REEP1):c.*630G>A rs60838463 0.03472
NM_001371279.1(REEP1):c.*2766T>C rs57249135 0.03260
NM_001371279.1(REEP1):c.*2457G>C rs77055865 0.03118
NM_001371279.1(REEP1):c.*1415G>T rs116705276 0.02275
NM_001371279.1(REEP1):c.*94T>C rs141976852 0.02270
NM_001371279.1(REEP1):c.*2513G>A rs115098584 0.02268
NM_001371279.1(REEP1):c.*2579T>C rs11902617 0.02248
NM_001371279.1(REEP1):c.*954G>A rs17510310 0.01856
NM_001371279.1(REEP1):c.*2995T>C rs17438464 0.01493
NM_001371279.1(REEP1):c.*737T>C rs150465452 0.01271
NM_001371279.1(REEP1):c.*2131G>A rs58401741 0.01166
NM_001371279.1(REEP1):c.*965G>A rs76860896 0.01007
NM_001371279.1(REEP1):c.486C>T (p.Asp162=) rs139806812 0.00425
NM_001371279.1(REEP1):c.*1325T>C rs3731816 0.00394
NM_001371279.1(REEP1):c.*1614G>A rs3731817 0.00389
NM_001371279.1(REEP1):c.*1330A>T rs141138007 0.00373
NM_001371279.1(REEP1):c.*2485G>A rs146273697 0.00254
NM_001371279.1(REEP1):c.*2784G>A rs567893414 0.00218
NM_001371279.1(REEP1):c.*1398G>A rs577908626 0.00217
NM_001371279.1(REEP1):c.*663G>C rs142894251 0.00157
NM_001371279.1(REEP1):c.*2434G>C rs535813756 0.00107
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp) rs144874997 0.00084
NM_001371279.1(REEP1):c.*1217A>G rs190070319 0.00083
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_001371279.1(REEP1):c.*2310C>T rs533698310 0.00055
NM_001371279.1(REEP1):c.*906C>T rs140533240 0.00051
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys) rs189652973 0.00041
NM_001371279.1(REEP1):c.*2200C>A rs772358643 0.00010
NM_001371279.1(REEP1):c.*2380C>T rs551489805 0.00010
NM_001371279.1(REEP1):c.*1733T>C rs766272571 0.00007
NM_001371279.1(REEP1):c.*218C>T rs1033340030 0.00005
NM_001371279.1(REEP1):c.582C>T (p.Ser194=) rs540194528 0.00005
NM_001371279.1(REEP1):c.*2967C>G rs1351975670 0.00003
NM_001371279.1(REEP1):c.*2733A>C rs886056396 0.00002
NM_001371279.1(REEP1):c.*1163A>G rs886056407 0.00001
NM_001371279.1(REEP1):c.*1435G>A rs368970831 0.00001
NM_001371279.1(REEP1):c.*1819G>A rs1173252698 0.00001
NM_001371279.1(REEP1):c.*93G>A rs1486206487 0.00001
NM_001371279.1(REEP1):c.836C>T (p.Ser279Leu) rs148490065 0.00001
NM_001371279.1(REEP1):c.*1119G>A rs1674088022
NM_001371279.1(REEP1):c.*124C>G rs1674140828
NM_001371279.1(REEP1):c.*1519T>C rs886056406
NM_001371279.1(REEP1):c.*1526A>T rs896373341
NM_001371279.1(REEP1):c.*1533G>C rs764271301
NM_001371279.1(REEP1):c.*1568T>A rs1674055590
NM_001371279.1(REEP1):c.*1702C>T rs993162388
NM_001371279.1(REEP1):c.*1853A>T rs886056405
NM_001371279.1(REEP1):c.*1987G>A rs144937908
NM_001371279.1(REEP1):c.*2189C>A rs558708657
NM_001371279.1(REEP1):c.*2357A>G rs1674009181
NM_001371279.1(REEP1):c.*2558A>G rs886056397
NM_001371279.1(REEP1):c.*2850T>G rs1673985889
NM_001371279.1(REEP1):c.*2896C>T rs1673982491
NM_001371279.1(REEP1):c.*509T>C rs145058780
NM_001371279.1(REEP1):c.*658C>G rs941801751
NM_001371279.1(REEP1):c.*787G>C rs1674107152
NM_001371279.1(REEP1):c.*864T>C rs1293776179
NM_001371279.1(REEP1):c.-4C>A rs1368031824
NM_001371279.1(REEP1):c.-73G>T rs1312748911
NM_001371279.1(REEP1):c.149C>T (p.Thr50Ile) rs886056410
NM_001371279.1(REEP1):c.379A>G (p.Asn127Asp) rs1676306574
NM_001371279.1(REEP1):c.417+15G>C rs755153738
NM_001371279.1(REEP1):c.44G>T (p.Gly15Val)

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