List of variants in gene RETREG1 reported as uncertain significance for Neuropathy, hereditary sensory and autonomic, type 2B

Minimum submission review status:		Collection method:
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: 36

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HGVS	dbSNP	gnomAD frequency
NM_001034850.3(RETREG1):c.*1641A>G	rs778191948	0.00068
NM_001034850.3(RETREG1):c.380G>A (p.Arg127His)	rs200871433	0.00036
NM_001034850.3(RETREG1):c.*1169G>A	rs914670182	0.00026
NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=)	rs759739482	0.00014
NM_001034850.3(RETREG1):c.*757G>A	rs3804255	0.00012
NM_001034850.3(RETREG1):c.1169C>T (p.Thr390Met)	rs374082497	0.00011
NM_001034850.3(RETREG1):c.*1235T>C	rs372275936	0.00010
NM_001034850.3(RETREG1):c.*853G>A	rs886060392	0.00007
NM_001034850.3(RETREG1):c.796C>T (p.Arg266Cys)	rs368759467	0.00006
NM_001034850.3(RETREG1):c.*1337A>C	rs894112531	0.00005
NM_001034850.3(RETREG1):c.*510A>T	rs1456553866	0.00004
NM_001034850.3(RETREG1):c.264C>T (p.Ser88=)	rs750040156	0.00004
NM_001034850.3(RETREG1):c.808+6T>C	rs368052487	0.00004
NM_001034850.3(RETREG1):c.841A>G (p.Ser281Gly)	rs1430719865	0.00003
NM_001034850.3(RETREG1):c.*498G>A	rs554300777	0.00002
NM_001034850.3(RETREG1):c.1418C>G (p.Thr473Arg)	rs1186811814	0.00002
NM_001034850.3(RETREG1):c.723A>G (p.Lys241=)	rs746380834	0.00002
NM_001034850.3(RETREG1):c.*219A>G	rs372254630	0.00001
NM_001034850.3(RETREG1):c.*581T>C	rs1055493479	0.00001
NM_001034850.3(RETREG1):c.1013C>T (p.Pro338Leu)	rs886060395	0.00001
NM_001034850.3(RETREG1):c.321-10G>A	rs539315640	0.00001
NM_001034850.3(RETREG1):c.442A>G (p.Arg148Gly)	rs886060396	0.00001
NM_001034850.3(RETREG1):c.631G>A (p.Gly211Arg)	rs1738748948	0.00001
NM_001034850.3(RETREG1):c.900G>A (p.Glu300=)	rs368710242	0.00001
NM_001034850.3(RETREG1):c.*1035T>C	rs527314474
NM_001034850.3(RETREG1):c.*1160T>C	rs886060390
NM_001034850.3(RETREG1):c.*123T>G	rs886060393
NM_001034850.3(RETREG1):c.*1653G>A	rs1738371371
NM_001034850.3(RETREG1):c.*913G>T	rs886060391
NM_001034850.3(RETREG1):c.1089T>C (p.Asp363=)	rs200156015
NM_001034850.3(RETREG1):c.1300C>G (p.Gln434Glu)	rs886060394
NM_001034850.3(RETREG1):c.295T>C (p.Phe99Leu)	rs1743520200
NM_001034850.3(RETREG1):c.321G>C (p.Trp107Cys)	rs200065908
NM_001034850.3(RETREG1):c.670+8T>C	rs1229368332
NM_001034850.3(RETREG1):c.953C>A (p.Thr318Asn)	rs368457852
NM_001034850.3(RETREG1):c.999T>A (p.Asp333Glu)	rs771586180

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