List of variants reported as benign for bulbospinal muscular atrophy by Illumina Laboratory Services, Illumina

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)	rs7158	0.53959
NM_016955.4(SEPSECS):c.*807A>G	rs13109061	0.38145
NM_003384.3(VRK1):c.705C>T (p.Gly235=)	rs2230532	0.32707
NM_003384.3(VRK1):c.45A>G (p.Ala15=)	rs2145635	0.32398
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)	rs2302566	0.07763
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)	rs3208406	0.06407
NM_016955.4(SEPSECS):c.1211+7A>G	rs17408685	0.04557
NM_016955.4(SEPSECS):c.*2966A>G	rs115116065	0.01758
NM_016955.4(SEPSECS):c.*3848C>T	rs111294195	0.01439
NM_016042.4(EXOSC3):c.*197C>T	rs117073203	0.01382
NM_016955.4(SEPSECS):c.*681A>C	rs76926200	0.01167
NM_016042.4(EXOSC3):c.*296T>C	rs138197600	0.01009
NM_016955.4(SEPSECS):c.1120+12T>C	rs4697552	0.00916
NM_016042.4(EXOSC3):c.-12G>C	rs115431773	0.00907
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)	rs115959591	0.00697
NM_016955.4(SEPSECS):c.*3775A>G	rs115004931	0.00670
NM_016955.4(SEPSECS):c.935-5T>G	rs2302564	0.00644
NM_016955.4(SEPSECS):c.*2123A>G	rs142960382	0.00625
NM_016955.4(SEPSECS):c.*454C>T	rs77936887	0.00552
NM_016955.4(SEPSECS):c.*2840T>C	rs144070806	0.00524
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)	rs62640003	0.00417
NM_003384.3(VRK1):c.375-8G>C	rs191021502	0.00051
NM_016955.4(SEPSECS):c.*223G>A	rs146860744	0.00051
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=)	rs368182922	0.00026
NM_016042.4(EXOSC3):c.*118G>T	rs1059059

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