List of variants in gene REEP1 reported as benign for Hereditary spastic paraplegia 31

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001371279.1(REEP1):c.33-23A>C	rs1863059	0.52882
NM_001371279.1(REEP1):c.417+45T>C	rs12988844	0.39574
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)	rs2276625	0.39011
NM_001371279.1(REEP1):c.105+26C>T	rs1863058	0.37197
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.784-19T>G	rs141722767	0.02274
NM_001371279.1(REEP1):c.486C>T (p.Asp162=)	rs139806812	0.00425
NM_001371279.1(REEP1):c.381C>T (p.Asn127=)	rs36008495	0.00419
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.784-16C>T	rs182467924	0.00108
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)	rs144874997	0.00084
NM_001371279.1(REEP1):c.231G>A (p.Leu77=)	rs139808535	0.00070
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	rs377637314	0.00068
NM_001371279.1(REEP1):c.*906C>T	rs140533240	0.00051
NM_001371279.1(REEP1):c.582C>T (p.Ser194=)	rs540194528	0.00005
NM_001371279.1(REEP1):c.32+19C>G	rs536482080	0.00004
NM_001371279.1(REEP1):c.808C>T (p.Arg270Cys)	rs375445585	0.00003
NM_001371279.1(REEP1):c.*1987G>A	rs144937908
NM_001371279.1(REEP1):c.*509T>C	rs145058780
NM_001371279.1(REEP1):c.106-12C>G
NM_001371279.1(REEP1):c.32+19del
NM_001371279.1(REEP1):c.60G>A (p.Ala20=)	rs186480337
NM_001371279.1(REEP1):c.784-18_784-15del	rs760605373

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