ClinVar Miner

List of variants studied for anterior horn disorder by GeneReviews

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg) rs121909192 0.00208
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
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_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_007375.4(TARDBP):c.*83T>C rs80356744 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) rs80356730 0.00001
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) rs80356719 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter) rs63751048 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NG_031977.1:g.(5321_5338)ins(60_?) rs143561967
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp) rs113994150
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25)
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly) rs80356546
NM_003334.4(UBA1):c.1731C>T (p.Asn577=) rs80356547
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.4(TARDBP):c.1121dup (p.Tyr374Ter) rs80356737
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) rs797044594
NM_007375.4(TARDBP):c.1153T>G (p.Trp385Gly) rs797044595
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly) rs80356717
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) rs80356723
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn) rs281864934
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter) rs63750355
NM_014043.4(CHMP2B):c.532-1G>A rs63750652
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) rs63751126
NM_020919.4(ALS2):c.138del (p.Ala47fs) rs386134173
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174

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