List of variants studied for anterior horn disorder by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
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_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	rs137853063	0.00006
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	rs372000714	0.00001
NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG
NM_002180.3(IGHMBP2):c.256+138A>G
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly)	rs387906830
NM_006000.3(TUBA4A):c.1169G>A (p.Arg390His)
NM_006000.3(TUBA4A):c.727C>A (p.Arg243Ser)
NM_014365.3(HSPB8):c.562del (p.Gln188fs)	rs1954727678
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His)	rs1029077401
NM_020919.4(ALS2):c.2580+2T>C	rs2106023727
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter)	rs1689931402
NM_021815.5(SLC5A7):c.742-2A>G
NM_181503.3(EXOSC8):c.17+1G>T	rs1412754843
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)	rs1593709247

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