List of variants reported as likely pathogenic for anterior horn disorder by Mendelics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu)	rs2149095964
NM_000052.7(ATP7A):c.2916+3A>T	rs2149100212
NM_000454.5(SOD1):c.449T>A (p.Ile150Asn)	rs1424014997
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs)	rs1246937494
NM_001376.5(DYNC1H1):c.3157-2A>T	rs2141280750
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)	rs794727634
NM_001376.5(DYNC1H1):c.791G>C (p.Arg264Pro)	rs713993043
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His)	rs2152584603
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)	rs1566443170
NM_002180.3(IGHMBP2):c.1632+3del	rs2154008712
NM_004960.4(FUS):c.1540A>T (p.Arg514Trp)	rs1555509609
NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn)	rs1574867228
NM_015046.7(SETX):c.1167A>C (p.Leu389Phe)	rs2131463306
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)	rs1555451521
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)	rs368751524

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