List of variants reported as uncertain significance for Hereditary spastic paraplegia 31 by Illumina Laboratory Services, Illumina

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_001371279.1(REEP1):c.*2434G>C	rs535813756	0.00107
NM_001371279.1(REEP1):c.*2310C>T	rs533698310	0.00055
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.*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.*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.*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

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