List of variants studied for bulbospinal muscular atrophy by Genetic Services Laboratory, University of Chicago

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=)	rs75288720	0.00287
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)	rs374550999	0.00093
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg)	rs145142315	0.00038
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe)	rs202097247	0.00037
NM_001077446.4(TSEN34):c.468G>C (p.Ser156=)	rs376153530	0.00019
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu)	rs201214741	0.00011
NM_025265.4(TSEN2):c.608C>T (p.Thr203Ile)	rs35557378	0.00003
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg)	rs797046051	0.00001
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)	rs587780333
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)	rs886041316
NM_025265.4(TSEN2):c.1272T>C (p.Ile424=)	rs111535594
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del)	rs797046052
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter)	rs797046054
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs)	rs797046055
NM_207346.3(TSEN54):c.823del (p.Val275fs)	rs797046057

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