ClinVar Miner

List of variants in gene RETREG1 studied for hereditary sensory and autonomic neuropathy type 2

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=) rs162848 0.71313
NM_001034850.3(RETREG1):c.1000+20G>T rs162850 0.71290
NM_001034850.3(RETREG1):c.459-25093T>C rs332811 0.57203
NM_001034850.3(RETREG1):c.873+23T>C rs162849 0.42260
NM_001034850.3(RETREG1):c.*1012G>A rs26016 0.37107
NM_001034850.3(RETREG1):c.*206A>C rs32147 0.29733
NM_001034850.3(RETREG1):c.603T>C (p.Cys201=) rs16868675 0.08069
NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr) rs61733811 0.03341
NM_001034850.3(RETREG1):c.*592G>A rs2401881 0.03326
NM_001034850.3(RETREG1):c.1001-17T>C rs16868657 0.02685
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu) rs34432513 0.01144
NM_001034850.3(RETREG1):c.438G>A (p.Leu146=) rs61741225 0.00939
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys) rs78314670 0.00642
NM_001034850.3(RETREG1):c.*235C>A rs144074026 0.00551
NM_001034850.3(RETREG1):c.607G>A (p.Val203Met) rs143878016 0.00296
NM_001034850.3(RETREG1):c.*1026T>C rs191157317 0.00294
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.1169C>T (p.Thr390Met) rs374082497 0.00011
NM_001034850.3(RETREG1):c.723A>G (p.Lys241=) rs746380834 0.00010
NM_001034850.3(RETREG1):c.*853G>A rs886060392 0.00008
NM_001034850.3(RETREG1):c.*1235T>C rs372275936 0.00006
NM_001034850.3(RETREG1):c.*757G>A rs3804255 0.00006
NM_001034850.3(RETREG1):c.339A>G (p.Pro113=) rs372182225 0.00006
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.*1170A>G rs184543943 0.00002
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.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.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.*219A>G rs372254630
NM_001034850.3(RETREG1):c.*455dup rs140982908
NM_001034850.3(RETREG1):c.*55del rs374572858
NM_001034850.3(RETREG1):c.*581T>C rs1055493479
NM_001034850.3(RETREG1):c.*71dup rs200951949
NM_001034850.3(RETREG1):c.*913G>T rs886060391
NM_001034850.3(RETREG1):c.1089T>C (p.Asp363=) rs200156015
NM_001034850.3(RETREG1):c.1221C>T (p.His407=)
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)
NM_001034850.3(RETREG1):c.433C>T (p.Gln145Ter) rs137852737
NM_001034850.3(RETREG1):c.458+2T>C rs1741988534
NM_001034850.3(RETREG1):c.631G>A (p.Gly211Arg)
NM_001034850.3(RETREG1):c.670+8T>C rs1229368332
NM_001034850.3(RETREG1):c.775G>T (p.Glu259Ter)
NM_001034850.3(RETREG1):c.803G>C (p.Arg268Thr) rs370636928
NM_001034850.3(RETREG1):c.826del (p.Ser276fs) rs886037748
NM_001034850.3(RETREG1):c.873+2T>C rs137852738
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001034850.3(RETREG1):c.953C>A (p.Thr318Asn) rs368457852
NM_001034850.3(RETREG1):c.953C>T (p.Thr318Ile) rs368457852
NM_001034850.3(RETREG1):c.999T>A (p.Asp333Glu) rs771586180

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