ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Baylor Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_182961.4(SYNE1):c.26154-2590C>G rs767099068 0.00022
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692 0.00016
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys) rs774710219 0.00014
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179 0.00014
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590 0.00008
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys) rs141278167 0.00005
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val) rs767978898 0.00004
NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg) rs779891217 0.00004
NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile) rs755180412 0.00003
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile) rs201487756 0.00003
NM_182961.4(SYNE1):c.11002G>A (p.Glu3668Lys) rs767544504 0.00002
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu) rs149940427 0.00002
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val) rs191912037 0.00001
NM_182961.4(SYNE1):c.23936G>A (p.Arg7979Gln) rs769773495 0.00001
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp) rs777175001 0.00001
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val) rs748579024
NM_182961.4(SYNE1):c.12066C>G (p.Ser4022Arg)
NM_182961.4(SYNE1):c.17521G>A (p.Ala5841Thr) rs2095189465
NM_182961.4(SYNE1):c.19260+2T>C rs1588855714
NM_182961.4(SYNE1):c.20136C>G (p.Ile6712Met) rs761906590
NM_182961.4(SYNE1):c.21195+14G>C rs2082553069
NM_182961.4(SYNE1):c.5728A>G (p.Asn1910Asp) rs1459660658
NM_182961.4(SYNE1):c.5980A>G (p.Ile1994Val) rs2098156852
NM_182961.4(SYNE1):c.6128A>T (p.Lys2043Met) rs1015453687
NM_182961.4(SYNE1):c.6412A>G (p.Lys2138Glu) rs2097962380
NM_182961.4(SYNE1):c.8882A>G (p.Gln2961Arg) rs1366579684
NM_182961.4(SYNE1):c.9220A>G (p.Arg3074Gly) rs2097283597

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