List of variants studied for hereditary peripheral neuropathy by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000081.4(LYST):c.1686G>C (p.Gln562His)	rs77091385	0.00394
NM_015046.7(SETX):c.472T>G (p.Leu158Val)	rs145438764	0.00347
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)	rs142303658	0.00038
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter)	rs267606751	0.00002
NM_000081.4(LYST):c.2724C>T (p.Cys908=)	rs201440611	0.00001
NM_020247.5(COQ8A):c.1399-12C>T	rs377529632	0.00001
NM_000081.4(LYST):c.5634+11A>G
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	rs199476375
NM_002972.4(SBF1):c.5463C>G (p.Tyr1821Ter)	rs144773853
NM_020247.4(COQ8A):c.807_808insT	rs3215920

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