ClinVar Miner

List of variants in gene SYNE4 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001039876.3(SYNE4):c.834G>C (p.Gln278His) rs2285422 0.95594
NM_001039876.3(SYNE4):c.225G>A (p.Pro75=) rs2285424 0.30451
NM_001039876.3(SYNE4):c.819T>C (p.Cys273=) rs2285423 0.03295
NM_001039876.3(SYNE4):c.523G>C (p.Ala175Pro) rs77925409 0.02760
NM_001039876.3(SYNE4):c.543G>A (p.Arg181=) rs143940810 0.01006
NM_001039876.3(SYNE4):c.363G>A (p.Gln121=) rs73607773 0.00926
NM_001039876.3(SYNE4):c.799C>T (p.Arg267Trp) rs79311416 0.00721
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=) rs147433902 0.00507
NM_001039876.3(SYNE4):c.*5T>C rs73928380 0.00275
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_001039876.3(SYNE4):c.96C>T (p.Thr32=) rs138787817 0.00145
NM_001039876.3(SYNE4):c.257C>T (p.Pro86Leu) rs200630302 0.00113
NM_001039876.3(SYNE4):c.7C>T (p.Leu3=) rs373148223 0.00095
NM_001039876.3(SYNE4):c.1020G>A (p.Glu340=) rs186898202 0.00080
NM_001039876.3(SYNE4):c.317A>C (p.Gln106Pro) rs200994810 0.00071
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_001039876.3(SYNE4):c.128+10G>A rs376639796 0.00038
NM_001039876.3(SYNE4):c.638C>T (p.Thr213Met) rs199916743 0.00028
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys) rs149470089 0.00024
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr) rs199853331 0.00022
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val) rs199938988 0.00021
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) rs150043310 0.00021
NM_001039876.3(SYNE4):c.789A>G (p.Gln263=) rs557057979 0.00009
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr) rs774276326 0.00004
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) rs750797779 0.00004
NM_001039876.3(SYNE4):c.1032-2A>T rs202107534 0.00003
NM_001039876.3(SYNE4):c.940C>T (p.His314Tyr) rs886101498 0.00003
NM_001039876.3(SYNE4):c.616C>T (p.Leu206=) rs771897813 0.00002
NM_001039876.3(SYNE4):c.972+5G>A rs369269989 0.00001
NM_001039876.1(SYNE4):c.(?_1)_(1215_?)del
NM_001039876.3(SYNE4):c.1025A>G (p.Asn342Ser) rs200948076
NM_001039876.3(SYNE4):c.1157G>A (p.Arg386Gln) rs200818193
NM_001039876.3(SYNE4):c.411G>A (p.Met137Ile) rs760007740
NM_001039876.3(SYNE4):c.59C>T (p.Pro20Leu) rs1450675140

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