ClinVar Miner

List of variants reported for Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type by Fulgent Genetics, Fulgent Genetics

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_182961.4(SYNE1):c.402+11A>G rs80276170 0.01033
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.20199+16C>T rs114739771 0.00395
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly) rs138481762 0.00051
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537 0.00039
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile) rs557729565 0.00006
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys) rs772622270 0.00005
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg) rs769420760 0.00005
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu) rs368607560 0.00004
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179 0.00003
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His) rs758415122 0.00001
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg) rs746655221
NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu) rs1207624769
NM_182961.4(SYNE1):c.3837+9G>A rs756594812

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