List of variants studied for bulbospinal muscular atrophy by Genome-Nilou Lab

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)	rs6501820	0.89534
NM_207346.3(TSEN54):c.285+32C>A	rs7218675	0.64612
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)	rs8064529	0.63819
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp)	rs7216673	0.60248
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)	rs9911502	0.58492
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)	rs7158	0.53959
NM_003384.3(VRK1):c.217-244T>C	rs12586511	0.34167
NM_003384.3(VRK1):c.705C>T (p.Gly235=)	rs2230532	0.32707
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)	rs1127446	0.32239
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)	rs11559205	0.09934
NM_003384.3(VRK1):c.1159+43C>G	rs45457797	0.08564
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)	rs2302566	0.07763
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)	rs62088470	0.04801
NM_016955.4(SEPSECS):c.1211+7A>G	rs17408685	0.04557
NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val)	rs746824533

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