ClinVar Miner

List of variants reported as benign for Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_139284.3(LGI4):c.456T>C (p.His152=) rs1673007 0.96172
NM_139284.3(LGI4):c.1203A>G (p.Thr401=) rs1319969 0.35140
NM_139284.3(LGI4):c.*11G>A rs11084800 0.34468
NM_139284.3(LGI4):c.1395G>A (p.Gln465=) rs12610234 0.34308
NM_139284.3(LGI4):c.1396C>T (p.Leu466=) rs12610146 0.34294
NM_139284.3(LGI4):c.834G>C (p.Pro278=) rs1687998 0.34261
NM_139284.3(LGI4):c.459-33G>A rs1688001 0.31837
NM_139284.3(LGI4):c.*10C>T rs3826989 0.22206

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