List of variants reported as pathogenic for spinal muscular atrophy by Fulgent Genetics, Fulgent Genetics

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000344.4(SMN1):c.*3+80T>G	rs143838139	0.08111
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	rs145226920	0.00016
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	rs201060167	0.00008
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	rs137853063	0.00006
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)	rs773242930	0.00004
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)	rs780594709	0.00003
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)	rs786205071	0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)	rs137852971	0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)	rs991227431	0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)	rs1324667543	0.00001
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs)	rs762142684	0.00001
NM_001122955.4(BSCL2):c.864-2A>G	rs766061024
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)	rs749890533
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)	rs587780564
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)	rs121909112
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)	rs750994603
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	rs724159994
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs)	rs1131691657
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)	rs972425138
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)	rs1566430156
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)	rs746581714
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)	rs782416867
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)	rs886041316
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)	rs672601331
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)	rs267607036
NM_016955.5(SEPSECS):c.808dup	rs776969714
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144

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