List of variants reported as pathogenic for peripheral neuropathy by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00117
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	rs61750420	0.00025
NM_000371.4(TTR):c.148G>A (p.Val50Met)	rs28933979	0.00004
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)	rs119467003	0.00002
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter)	rs80338645
NM_000081.4(LYST):c.2413del (p.Glu805fs)	rs80338647
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)	rs267608216
NM_000287.4(PEX6):c.882+1G>A	rs267608207
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)	rs61750406
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415

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