ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001034850.3(RETREG1):c.1000+20G>T rs162850 0.71290
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=) rs162848 0.70574
NM_001034850.3(RETREG1):c.459-25093T>C rs332811 0.57203
NM_001034850.3(RETREG1):c.873+23T>C rs162849 0.41319
NM_001034850.3(RETREG1):c.*1012G>A rs26016 0.37375
NM_001034850.3(RETREG1):c.*206A>C rs32147 0.29733
NM_001034850.3(RETREG1):c.603T>C (p.Cys201=) rs16868675 0.07633
NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr) rs61733811 0.03152
NM_001034850.3(RETREG1):c.*592G>A rs2401881 0.03136
NM_001034850.3(RETREG1):c.1001-17T>C rs16868657 0.02685
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu) rs34432513 0.01064
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

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