ClinVar Miner

List of variants reported as likely benign for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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HGVS dbSNP
NM_033071.3(SYNE1):c.10985G>A (p.Cys3662Tyr) rs148028681
NM_033071.3(SYNE1):c.11757G>A (p.Leu3919=) rs960254266
NM_033071.3(SYNE1):c.15186G>A (p.Ser5062=) rs761249756
NM_033071.3(SYNE1):c.16083G>A (p.Arg5361=) rs144376043
NM_033071.3(SYNE1):c.16905A>G (p.Leu5635=) rs1194006323
NM_033071.3(SYNE1):c.17270C>G (p.Thr5757Arg) rs150376715
NM_033071.3(SYNE1):c.17859C>T (p.Leu5953=) rs749375364
NM_033071.3(SYNE1):c.18813C>T (p.Asp6271=) rs370053768
NM_033071.3(SYNE1):c.19857G>A (p.Thr6619=) rs141263831
NM_033071.3(SYNE1):c.19950C>T (p.Asn6650=) rs201221147
NM_033071.3(SYNE1):c.20340C>T (p.Ala6780=) rs969664934
NM_033071.3(SYNE1):c.20685A>G (p.Thr6895=) rs766515787
NM_033071.3(SYNE1):c.21649-4C>T rs772311271
NM_033071.3(SYNE1):c.21666G>A (p.Leu7222=) rs749164483
NM_033071.3(SYNE1):c.21825A>G (p.Ser7275=) rs201392317
NM_033071.3(SYNE1):c.22134-9T>A rs535951024
NM_033071.3(SYNE1):c.22282-10dup rs767966157
NM_033071.3(SYNE1):c.22689G>A (p.Ser7563=) rs140577642
NM_033071.3(SYNE1):c.23193A>G (p.Lys7731=) rs780485635
NM_033071.3(SYNE1):c.24420C>T (p.Ile8140=) rs201078523
NM_033071.3(SYNE1):c.2508C>T (p.Asp836=) rs753367709
NM_033071.3(SYNE1):c.4170+9T>C rs1554706986
NM_033071.3(SYNE1):c.4845G>A (p.Ala1615=) rs369587906
NM_033071.3(SYNE1):c.5013A>G (p.Leu1671=) rs187410988
NM_033071.3(SYNE1):c.5442+9delG rs774622835
NM_033071.3(SYNE1):c.6915C>A (p.Thr2305=) rs1554629711
NM_033071.3(SYNE1):c.7818C>G (p.Ser2606=) rs748909185
NM_033071.3(SYNE1):c.7998C>A (p.Thr2666=) rs1032522783
NM_033071.3(SYNE1):c.9981G>A (p.Thr3327=) rs747731841
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=) rs114858512
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu) rs140359400
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950
NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=) rs377739292
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys) rs187403476
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=) rs200002217
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960
NM_182961.4(SYNE1):c.19689C>A (p.Leu6563=) rs372285648
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272
NM_182961.4(SYNE1):c.21474G>A (p.Leu7158=) rs370065996
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566
NM_182961.4(SYNE1):c.24861C>T (p.His8287=) rs202207154
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=) rs370645510
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=) rs886042121
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177
NM_182961.4(SYNE1):c.5421+9G>T rs376218204
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=) rs533039765
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val) rs116721144
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711

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