ClinVar Miner

List of variants reported as likely benign for Emery-Dreifuss muscular dystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NC_000014.9:g.23408281C>T rs142094404 0.00318
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=) rs138769395 0.00232
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868 0.00067
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00059
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551 0.00024
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966 0.00023
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile) rs150335599 0.00021
NM_182914.3(SYNE2):c.16312G>A (p.Asp5438Asn) rs201134182 0.00020
NM_182914.3(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe) rs370016934 0.00019
NM_182961.4(SYNE1):c.7238-11T>C rs200802315 0.00019
NM_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr) rs140962690 0.00015
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704 0.00015
NM_182914.3(SYNE2):c.*59G>A rs776787883 0.00014
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met) rs568071525 0.00014
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647 0.00014
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_182914.3(SYNE2):c.11549A>G (p.Asp3850Gly) rs527339341 0.00013
NM_182914.3(SYNE2):c.15234A>G (p.Gln5078=) rs139340468 0.00013
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182 0.00013
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379 0.00013
NM_182914.3(SYNE2):c.2190A>G (p.Thr730=) rs374751877 0.00012
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534 0.00012
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala) rs773536890 0.00012
NM_182961.4(SYNE1):c.4008+15T>C rs368542446 0.00012
NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys) rs150105416 0.00011
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met) rs145018323 0.00011
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037 0.00011
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070 0.00011
NM_182914.3(SYNE2):c.12381+6G>A rs781486571 0.00010
NM_182914.3(SYNE2):c.20240A>C (p.Gln6747Pro) rs147470935 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=) rs45587932 0.00009
NM_182914.3(SYNE2):c.19623C>T (p.Asp6541=) rs150366060 0.00009
NM_182914.3(SYNE2):c.907A>G (p.Met303Val) rs377535370 0.00009
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) rs150700669 0.00009
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala) rs367790193 0.00009
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541 0.00009
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=) rs201537074 0.00009
NM_182961.4(SYNE1):c.24977-5C>T rs767722883 0.00009
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg) rs753646712 0.00008
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028 0.00008
NM_182914.3(SYNE2):c.18389+7A>T rs372337180 0.00008
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp) rs773994020 0.00008
NM_182914.3(SYNE2):c.4071G>A (p.Thr1357=) rs371506443 0.00008
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197 0.00008
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn) rs760936547 0.00007
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147 0.00007
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317 0.00007
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825 0.00006
NM_182914.3(SYNE2):c.14088G>A (p.Gly4696=) rs200893674 0.00006
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln) rs140857065 0.00006
NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933 0.00006
NM_182914.3(SYNE2):c.8862G>T (p.Ala2954=) rs373930498 0.00006
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=) rs377049622 0.00006
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile) rs147125369 0.00006
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132 0.00006
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00006
NM_182961.4(SYNE1):c.310-468G>A rs143635963 0.00006
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363 0.00006
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile) rs755866233 0.00006
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464 0.00006
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_182914.3(SYNE2):c.14298C>G (p.Thr4766=) rs779655754 0.00005
NM_182914.3(SYNE2):c.16754G>A (p.Arg5585His) rs141144237 0.00005
NM_182914.3(SYNE2):c.19938C>T (p.Thr6646=) rs765762035 0.00005
NM_182914.3(SYNE2):c.3885C>T (p.His1295=) rs570341792 0.00005
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val) rs375543783 0.00005
NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=) rs745820221 0.00004
NM_182914.3(SYNE2):c.13281-6C>T rs376973894 0.00004
NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu) rs143798878 0.00004
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187 0.00004
NM_182914.3(SYNE2):c.3639-12C>T rs750618626 0.00004
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val) rs150409035 0.00004
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp) rs202171698 0.00004
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp) rs200209279 0.00004
NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln) rs200137670 0.00004
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=) rs746159592 0.00004
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988 0.00004
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_182914.3(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514 0.00003
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017 0.00003
NM_182914.3(SYNE2):c.18315G>A (p.Ser6105=) rs202084149 0.00003
NM_182914.3(SYNE2):c.19204G>A (p.Glu6402Lys) rs200971467 0.00003
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=) rs143851739 0.00003
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His) rs199673397 0.00003
NM_182961.4(SYNE1):c.17774A>G (p.Tyr5925Cys) rs759380758 0.00003
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp) rs201873107 0.00003
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln) rs747634832 0.00003
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met) rs373340663 0.00002
NM_182914.3(SYNE2):c.13918-13A>G rs775576281 0.00002
NM_182914.3(SYNE2):c.14252T>C (p.Val4751Ala) rs752935094 0.00002
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu) rs145031656 0.00002
NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met) rs181059522 0.00002
NM_182914.3(SYNE2):c.16760+6A>G rs756707482 0.00002
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr) rs143077670 0.00002
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226 0.00002
NM_182914.3(SYNE2):c.6793T>C (p.Leu2265=) rs746513307 0.00002
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe) rs200570324 0.00002
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr) rs368709678 0.00002
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro) rs753335678 0.00002
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp) rs202017153 0.00002
NM_182961.4(SYNE1):c.5666A>C (p.Gln1889Pro) rs779600835 0.00002
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841 0.00002
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_182914.3(SYNE2):c.12352G>A (p.Glu4118Lys) rs763188798 0.00001
NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr) rs775169295 0.00001
NM_182914.3(SYNE2):c.16480-9T>G rs776380039 0.00001
NM_182914.3(SYNE2):c.888+11A>G rs747593732 0.00001
NM_182961.4(SYNE1):c.10289G>A (p.Gly3430Glu) rs760727534 0.00001
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr) rs747838657 0.00001
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His) rs150266354 0.00001
NM_182961.4(SYNE1):c.16237-10A>T rs201078255 0.00001
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=) rs573806608 0.00001
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser) rs774683772 0.00001
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala) rs753654674 0.00001
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln) rs267600862 0.00001
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr) rs371609288 0.00001
NM_182961.4(SYNE1):c.8462T>C (p.Phe2821Ser) rs202207690 0.00001
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=) rs199554198 0.00001
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_182914.3(SYNE2):c.11550C>A (p.Asp3850Glu) rs146261323
NM_182914.3(SYNE2):c.15290TTC[1] (p.Leu5098del) rs368230785
NM_182914.3(SYNE2):c.15483+13G>A rs369303929
NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.3(SYNE2):c.6330G>A (p.Pro2110=) rs779101206
NM_182914.3(SYNE2):c.8862G>A (p.Ala2954=) rs373930498
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu) rs756840607
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met) rs550027519
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys) rs577888458

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