ClinVar Miner

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

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) rs753207473 0.00004
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg) rs1347461335 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs) rs2149090269
NM_000052.7(ATP7A):c.3659-1G>A rs2149110457
NM_000052.7(ATP7A):c.3802-1G>A rs398123135
NM_000052.7(ATP7A):c.437del (p.Leu146fs) rs2149082699
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_001376.5(DYNC1H1):c.3395G>A (p.Gly1132Glu) rs2141280974
NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser) rs727505393
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met) rs1303447354
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_014845.6(FIG4):c.1150del (p.Arg384fs) rs1583695322
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs) rs1362178149
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566

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