ClinVar Miner

List of variants studied for arthrogryposis multiplex congenita 1, neurogenic, with myelin defect by OMIM

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_139284.3(LGI4):c.1301T>A (p.Val434Asp) rs1064797094 0.00001
NM_139284.3(LGI4):c.793G>A (p.Ala265Thr) rs779232987 0.00001
NM_139284.3(LGI4):c.1299+5G>T rs1064797095
NM_139284.3(LGI4):c.773G>C (p.Arg258Pro) rs755500591
NM_139284.3(LGI4):c.793+5G>C rs1064797093
NM_139284.3(LGI4):c.863G>A (p.Trp288Ter) rs775997446

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