ClinVar Miner

List of variants reported as uncertain significance for anterior horn disorder by Institute of Human Genetics, Cologne University

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg) rs145266399 0.00024
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_015046.7(SETX):c.895C>T (p.Arg299Cys) rs777182592 0.00002
NM_006329.4(FBLN5):c.605G>T (p.Gly202Val) rs137901671 0.00001
NM_015046.7(SETX):c.7711C>T (p.Pro2571Ser) rs1554801479
NM_016955.4(SEPSECS):c.812G>T (p.Arg271Leu) rs573577287

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