List of variants studied for Neuropathy, hereditary sensory and autonomic, type 2B by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001034850.3(RETREG1):c.-19T>C	rs35003	0.80227
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.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.607G>A (p.Val203Met)	rs143878016	0.00296
NM_001034850.3(RETREG1):c.380G>A (p.Arg127His)	rs200871433	0.00036
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.1221C>T (p.His407=)
NM_001034850.3(RETREG1):c.775G>T (p.Glu259Ter)	rs751185980

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