ClinVar Miner

List of variants reported as likely benign for Emery-Dreifuss muscular dystrophy 5, autosomal dominant by Illumina Laboratory Services, Illumina

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_182914.3(SYNE2):c.16312G>A (p.Asp5438Asn) rs201134182 0.00020
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_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_182914.3(SYNE2):c.11549A>G (p.Asp3850Gly) rs527339341 0.00013
NM_182914.3(SYNE2):c.15234A>G (p.Gln5078=) rs139340468 0.00013
NM_182914.3(SYNE2):c.2190A>G (p.Thr730=) rs374751877 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_182914.3(SYNE2):c.12381+6G>A rs781486571 0.00010
NM_182914.3(SYNE2):c.20240A>C (p.Gln6747Pro) rs147470935 0.00010
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_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_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_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_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_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_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_182914.3(SYNE2):c.11550C>A (p.Asp3850Glu) rs146261323
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

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