ClinVar Miner

List of variants studied for Arthrogryposis multiplex congenita 3, myogenic type by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter) rs760715690 0.00001
NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter) rs746177326 0.00001
NM_182961.4(SYNE1):c.24313-2A>G rs1586285494

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