ClinVar Miner

List of variants reported for Arthrogryposis multiplex congenita 3, myogenic type by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys) rs772396355 0.00002
NM_182961.4(SYNE1):c.4003A>G (p.Ile1335Val) rs756229240
NM_182961.4(SYNE1):c.4807G>A (p.Glu1603Lys) rs2498530199
NM_182961.4(SYNE1):c.4828A>T (p.Thr1610Ser) rs764423220
NM_182961.4(SYNE1):c.8861C>A (p.Ser2954Ter) rs145819043

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