ClinVar Miner

List of variants in gene SYNE1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786 0.00290
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635 0.00166
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00137
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921 0.00134
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849 0.00125
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val) rs116721144 0.00114
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His) rs34963077 0.00106
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520 0.00080
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys) rs139466191 0.00061
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00058
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) rs139643725 0.00045
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013 0.00042
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764 0.00040
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile) rs151156420 0.00039
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys) rs142258643 0.00034
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716 0.00030
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu) rs141996707 0.00028
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu) rs144276162 0.00024
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966 0.00023
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500 0.00023
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu) rs139805184 0.00021
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr) rs149744490 0.00019
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys) rs536892317 0.00016
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala) rs146965313 0.00016
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys) rs34974663 0.00014
NM_182961.4(SYNE1):c.6009A>C (p.Lys2003Asn) rs772627014 0.00014
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430 0.00014
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785 0.00009
NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr) rs150761564 0.00009
NM_182961.4(SYNE1):c.21493G>T (p.Ala7165Ser) rs150723622 0.00009
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys) rs550171329 0.00008
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val) rs151250199 0.00008
NM_182961.4(SYNE1):c.23933G>A (p.Arg7978Gln) rs774319570 0.00008
NM_182961.4(SYNE1):c.298G>A (p.Glu100Lys) rs187117263 0.00008
NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val) rs145639107 0.00006
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132 0.00006
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His) rs144888773 0.00006
NM_182961.4(SYNE1):c.20960G>A (p.Ser6987Asn) rs779301586 0.00005
NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg) rs759004104 0.00005
NM_182961.4(SYNE1):c.12476G>A (p.Arg4159Lys) rs762119902 0.00004
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val) rs767978898 0.00004
NM_182961.4(SYNE1):c.4552G>C (p.Glu1518Gln) rs760544014 0.00004
NM_182961.4(SYNE1):c.21430A>G (p.Ser7144Gly) rs759479600 0.00003
NM_182961.4(SYNE1):c.24779C>T (p.Ser8260Leu) rs188852595 0.00003
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys) rs1024177161 0.00003
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp) rs202017153 0.00002
NM_182961.4(SYNE1):c.18079G>C (p.Glu6027Gln) rs745822192 0.00001
NM_182961.4(SYNE1):c.18232G>A (p.Glu6078Lys) rs769008190 0.00001
NM_182961.4(SYNE1):c.18788C>T (p.Ser6263Leu) rs141196768 0.00001
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val) rs773506774 0.00001
NM_182961.4(SYNE1):c.20957G>A (p.Arg6986His) rs772675312 0.00001
NM_182961.4(SYNE1):c.21163G>C (p.Ala7055Pro) rs772233604 0.00001
NM_182961.4(SYNE1):c.24429A>T (p.Gln8143His) rs775617906 0.00001
NM_182961.4(SYNE1):c.24601G>A (p.Gly8201Arg) rs886042886 0.00001
NM_182961.4(SYNE1):c.25489G>A (p.Ala8497Thr) rs777390431 0.00001
NM_182961.4(SYNE1):c.26072G>A (p.Ser8691Asn) rs753533241 0.00001
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn) rs1374710512 0.00001
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp) rs777175001 0.00001
NM_182961.4(SYNE1):c.5108A>G (p.Gln1703Arg) rs200766001 0.00001
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly) rs777595583 0.00001
NM_182961.4(SYNE1):c.7102C>T (p.Arg2368Cys) rs780033455 0.00001
NM_182961.4(SYNE1):c.10233C>G (p.Asn3411Lys)
NM_182961.4(SYNE1):c.11007C>A (p.Ser3669Arg)
NM_182961.4(SYNE1):c.11652G>C (p.Leu3884Phe)
NM_182961.4(SYNE1):c.12585G>T (p.Lys4195Asn) rs149536991
NM_182961.4(SYNE1):c.13289C>T (p.Ala4430Val)
NM_182961.4(SYNE1):c.13961T>C (p.Val4654Ala)
NM_182961.4(SYNE1):c.14821A>G (p.Met4941Val)
NM_182961.4(SYNE1):c.15531C>G (p.Ser5177Arg)
NM_182961.4(SYNE1):c.16355C>T (p.Thr5452Ile)
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.1699G>A (p.Ala567Thr)
NM_182961.4(SYNE1):c.17209G>A (p.Val5737Met)
NM_182961.4(SYNE1):c.17689G>T (p.Ala5897Ser) rs749866224
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) rs794727986
NM_182961.4(SYNE1):c.18814G>T (p.Gly6272Cys)
NM_182961.4(SYNE1):c.19703A>G (p.Asp6568Gly)
NM_182961.4(SYNE1):c.21276G>C (p.Lys7092Asn)
NM_182961.4(SYNE1):c.21286G>A (p.Val7096Ile)
NM_182961.4(SYNE1):c.21736G>C (p.Asp7246His)
NM_182961.4(SYNE1):c.21852A>C (p.Gln7284His)
NM_182961.4(SYNE1):c.22176G>C (p.Arg7392Ser)
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly) rs1587952687
NM_182961.4(SYNE1):c.23791G>A (p.Glu7931Lys)
NM_182961.4(SYNE1):c.24310A>G (p.Lys8104Glu) rs1563054108
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24824C>T (p.Pro8275Leu)
NM_182961.4(SYNE1):c.3559A>G (p.Arg1187Gly)
NM_182961.4(SYNE1):c.4124T>C (p.Leu1375Ser)
NM_182961.4(SYNE1):c.530A>G (p.Gln177Arg)
NM_182961.4(SYNE1):c.5431G>A (p.Ala1811Thr)
NM_182961.4(SYNE1):c.6738C>A (p.Asn2246Lys)
NM_182961.4(SYNE1):c.7138C>T (p.Arg2380Cys)
NM_182961.4(SYNE1):c.8482G>A (p.Ala2828Thr)
NM_182961.4(SYNE1):c.8845A>G (p.Ser2949Gly)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.