ClinVar Miner

List of variants reported as uncertain significance for Emery-Dreifuss muscular dystrophy by Baylor Genetics

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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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_182914.3(SYNE2):c.16905+4A>C rs369093036 0.00008
NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val) rs368642506 0.00008
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590 0.00008
NM_182914.3(SYNE2):c.15073A>G (p.Thr5025Ala) rs527550049 0.00005
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_000257.4(MYH7):c.49C>T (p.Arg17Cys) rs45511396 0.00003
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_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys) rs570116954 0.00002
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_000257.4(MYH7):c.541G>A (p.Gly181Arg) rs760187215 0.00001
NM_170707.4(LMNA):c.1304G>A (p.Arg435His) rs1263919141 0.00001
NM_182914.3(SYNE2):c.13826A>C (p.Asn4609Thr) rs751525888 0.00001
NM_182914.3(SYNE2):c.20176C>T (p.Arg6726Trp) rs371271767 0.00001
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro) rs748414819 0.00001
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_000257.4(MYH7):c.345+1G>A rs112907315
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro) rs397516195
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys) rs878853840
NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser) rs56391414
NM_170707.4(LMNA):c.357-3735G>A
NM_182914.3(SYNE2):c.14356C>T (p.Leu4786Phe)
NM_182914.3(SYNE2):c.17554A>C (p.Lys5852Gln) rs886043099
NM_182914.3(SYNE2):c.2279A>G (p.Asp760Gly) rs1594681467
NM_182914.3(SYNE2):c.8825T>C (p.Ile2942Thr) rs2097236781
NM_182914.3(SYNE2):c.9610T>G (p.Cys3204Gly) rs531451940
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.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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