List of variants reported as benign for bulbospinal muscular atrophy by Invitae

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)	rs7158	0.53959
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_016042.4(EXOSC3):c.673T>C (p.Tyr225His)	rs3208406	0.06407
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)	rs62640003	0.00417
NM_003384.3(VRK1):c.286+12A>G	rs376603491	0.00085
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)	rs147853760	0.00066
NM_003384.3(VRK1):c.375-8G>C	rs191021502	0.00051
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)	rs148348866	0.00022
NM_003384.3(VRK1):c.710-13C>T	rs374386994	0.00016
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)	rs910605187	0.00004
NM_003384.3(VRK1):c.1160-8del	rs2139857568
NM_003384.3(VRK1):c.161-7dup	rs1295596727
NM_003384.3(VRK1):c.374+7dup
NM_003384.3(VRK1):c.375-14A>G
NM_003384.3(VRK1):c.483+20_483+22del	rs566207500
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)

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