ClinVar Miner

List of variants in gene SYNE1 reported as benign for Emery-Dreifuss muscular dystrophy

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Gene type:
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Total variants: 45
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HGVS dbSNP
NM_033071.3(SYNE1):c.10166+12T>C rs112401775
NM_033071.3(SYNE1):c.10212C>A (p.Gly3404=) rs4407724
NM_033071.3(SYNE1):c.1068+4T>A rs9397106
NM_033071.3(SYNE1):c.10881+6T>C rs9397102
NM_033071.3(SYNE1):c.11535+15C>T rs6908392
NM_033071.3(SYNE1):c.11536-15dupT rs5880967
NM_033071.3(SYNE1):c.11576A>C (p.Lys3859Thr) rs13210127
NM_033071.3(SYNE1):c.11925G>A (p.Gln3975=) rs60344647
NM_033071.3(SYNE1):c.11967G>T (p.Glu3989Asp) rs4645434
NM_033071.3(SYNE1):c.12063C>T (p.Leu4021=) rs71575926
NM_033071.3(SYNE1):c.12149A>G (p.Lys4050Arg) rs9479297
NM_033071.3(SYNE1):c.12150G>T (p.Lys4050Asn) rs28385621
NM_033071.3(SYNE1):c.12394G>A (p.Glu4132Lys) rs2130262
NM_033071.3(SYNE1):c.12582-12A>G rs9478314
NM_033071.3(SYNE1):c.13573T>A (p.Ser4525Thr) rs6911096
NM_033071.3(SYNE1):c.13848G>C (p.Leu4616=) rs3734365
NM_033071.3(SYNE1):c.14830T>A (p.Leu4944Met) rs2306916
NM_033071.3(SYNE1):c.15384C>G (p.Ala5128=) rs9383987
NM_033071.3(SYNE1):c.16064C>T (p.Thr5355Met) rs2306914
NM_033071.3(SYNE1):c.17133+7G>A rs9383985
NM_033071.3(SYNE1):c.17532C>T (p.His5844=) rs12664753
NM_033071.3(SYNE1):c.20317-14G>A rs2296254
NM_033071.3(SYNE1):c.21443+13T>C rs9383976
NM_033071.3(SYNE1):c.21691T>G (p.Phe7231Val) rs2147377
NM_033071.3(SYNE1):c.22239A>G (p.Ser7413=) rs36044575
NM_033071.3(SYNE1):c.22458C>T (p.Ile7486=) rs3798756
NM_033071.3(SYNE1):c.24289G>T (p.Ala8097Ser) rs17082236
NM_033071.3(SYNE1):c.24612G>A (p.Pro8204=) rs2252748
NM_033071.3(SYNE1):c.24755G>C (p.Gly8252Ala) rs2252755
NM_033071.3(SYNE1):c.24780A>G (p.Glu8260=) rs2747662
NM_033071.3(SYNE1):c.24894T>C (p.Arg8298=) rs2256135
NM_033071.3(SYNE1):c.25858-4A>G rs77220999
NM_033071.3(SYNE1):c.25916C>T (p.Thr8639Ile) rs35591210
NM_033071.3(SYNE1):c.2674T>G (p.Leu892Val) rs17082709
NM_033071.3(SYNE1):c.3125T>C (p.Val1042Ala) rs214976
NM_033071.3(SYNE1):c.3327C>T (p.His1109=) rs17082701
NM_033071.3(SYNE1):c.6491A>G (p.Lys2164Arg) rs75989452
NM_033071.3(SYNE1):c.7734-11C>T rs201131946
NM_033071.3(SYNE1):c.7734-12C>T rs550804556
NM_033071.3(SYNE1):c.8184C>T (p.Ser2728=) rs58905396
NM_033071.3(SYNE1):c.8198+9C>T rs56877632
NM_033071.3(SYNE1):c.8405C>T (p.Ala2802Val) rs214950
NM_033071.3(SYNE1):c.9168-13G>A rs214955
NM_033071.3(SYNE1):c.9516A>G (p.Glu3172=) rs6913579
NM_033071.3(SYNE1):c.9975C>T (p.Ser3325=) rs73626656

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