ClinVar Miner

List of variants reported as uncertain significance for Arthrogryposis multiplex congenita 3, myogenic type

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln) rs774776856 0.00008
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His) rs776733924 0.00004
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys) rs375917264 0.00003
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys) rs772396355 0.00002
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly) rs767294741 0.00001
NM_182961.4(SYNE1):c.26152A>G (p.Arg8718Gly) rs151281204 0.00001
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val) rs750101869 0.00001
NM_182961.4(SYNE1):c.12955A>C (p.Ser4319Arg) rs1267678977
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17187G>C (p.Gln5729His) rs1262683167
NM_182961.4(SYNE1):c.25523A>G (p.Glu8508Gly) rs2057176996
NM_182961.4(SYNE1):c.4003A>G (p.Ile1335Val)
NM_182961.4(SYNE1):c.4807G>A (p.Glu1603Lys)
NM_182961.4(SYNE1):c.4828A>T (p.Thr1610Ser)
NM_182961.4(SYNE1):c.6724-3C>T
NM_182961.4(SYNE1):c.8769G>T (p.Met2923Ile) rs2097408369

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