ClinVar Miner

List of variants in gene SUN2 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_015374.3(SUN2):c.266T>G (p.Leu89Arg) rs35496634 0.07876
NM_015374.3(SUN2):c.656C>T (p.Pro219Leu) rs1883206 0.01037
NM_015374.3(SUN2):c.424+17C>T rs114206377 0.00920
NM_015374.3(SUN2):c.614+6C>T rs116680988 0.00890
NM_015374.3(SUN2):c.97A>G (p.Thr33Ala) rs2072799 0.00592
NM_015374.3(SUN2):c.155G>A (p.Arg52His) rs4510314 0.00486
NM_015374.3(SUN2):c.485C>T (p.Ala162Val) rs62639696 0.00464
NM_015374.3(SUN2):c.615-19G>A rs189559627 0.00287
NM_015374.3(SUN2):c.471C>T (p.Ser157=) rs146940466 0.00160
NM_015374.3(SUN2):c.467G>A (p.Arg156Gln) rs137925849 0.00125
NM_015374.3(SUN2):c.424+6C>T rs199843484 0.00088
NM_015374.3(SUN2):c.286+18C>T rs202130199 0.00086
NM_015374.3(SUN2):c.614+7G>A rs202214602 0.00071
NM_015374.3(SUN2):c.276C>T (p.Asp92=) rs111670814 0.00068
NM_015374.3(SUN2):c.28C>T (p.Arg10Cys) rs139611023 0.00063
NM_015374.3(SUN2):c.166G>C (p.Ala56Pro) rs137966643 0.00041
NM_015374.3(SUN2):c.686-12C>T rs372413342 0.00038
NM_015374.3(SUN2):c.432G>A (p.Ser144=) rs140094524 0.00034
NM_015374.3(SUN2):c.657G>A (p.Pro219=) rs143617240 0.00026
NM_015374.3(SUN2):c.615-10C>T rs375410049 0.00024
NM_015374.3(SUN2):c.431C>T (p.Ser144Leu) rs143710758 0.00021
NM_015374.3(SUN2):c.26C>T (p.Thr9Met) rs149995796 0.00017
NM_015374.3(SUN2):c.461G>A (p.Arg154Gln) rs143392390 0.00017
NM_015374.3(SUN2):c.425-11G>A rs774550032 0.00016
NM_015374.3(SUN2):c.615-11G>A rs368890492 0.00016
NM_015374.3(SUN2):c.172C>A (p.Gln58Lys) rs375796599 0.00014
NM_015374.3(SUN2):c.287-16G>A rs749337613 0.00014
NM_015374.3(SUN2):c.425-9T>C rs375405393 0.00013
NM_015374.3(SUN2):c.475G>A (p.Val159Ile) rs201453554 0.00013
NM_015374.3(SUN2):c.635C>T (p.Thr212Met) rs142155226 0.00013
NM_015374.3(SUN2):c.396G>A (p.Ser132=) rs374648086 0.00012
NM_015374.3(SUN2):c.521G>T (p.Gly174Val) rs148232799 0.00012
NM_015374.3(SUN2):c.31T>C (p.Tyr11His) rs771840984 0.00011
NM_015374.3(SUN2):c.520+8G>A rs201387591 0.00011
NM_015374.3(SUN2):c.672G>A (p.Thr224=) rs767229084 0.00010
NM_015374.3(SUN2):c.425-4G>A rs372875785 0.00009
NM_015374.3(SUN2):c.773A>G (p.Asp258Gly) rs201945306 0.00009
NM_015374.3(SUN2):c.51C>T (p.Asp17=) rs759125687 0.00008
NM_015374.3(SUN2):c.459G>A (p.Ser153=) rs138320872 0.00006
NM_015374.3(SUN2):c.472G>A (p.Ala158Thr) rs199600089 0.00006
NM_015374.3(SUN2):c.615-9G>A rs757921553 0.00006
NM_015374.3(SUN2):c.616C>A (p.Arg206Ser) rs150381950 0.00006
NM_015374.3(SUN2):c.45C>T (p.Asp15=) rs146335558 0.00005
NM_015374.3(SUN2):c.726C>T (p.His242=) rs539723941 0.00005
NM_015374.3(SUN2):c.8G>A (p.Arg3Gln) rs764750687 0.00005
NM_015374.3(SUN2):c.624G>A (p.Ser208=) rs747299144 0.00004
NM_015374.3(SUN2):c.763A>C (p.Arg255=) rs781191176 0.00004
NM_015374.3(SUN2):c.800C>T (p.Ser267Leu) rs200092509 0.00004
NM_015374.3(SUN2):c.147C>T (p.Asn49=) rs769644853 0.00003
NM_015374.3(SUN2):c.231G>C (p.Glu77Asp) rs760297349 0.00003
NM_015374.3(SUN2):c.243A>C (p.Pro81=) rs745316329 0.00003
NM_015374.3(SUN2):c.362G>A (p.Arg121His) rs200211836 0.00003
NM_015374.3(SUN2):c.458C>T (p.Ser153Leu) rs374690791 0.00003
NM_015374.3(SUN2):c.604G>A (p.Val202Ile) rs751598721 0.00003
NM_015374.3(SUN2):c.636G>A (p.Thr212=) rs200221237 0.00003
NM_015374.3(SUN2):c.681G>A (p.Thr227=) rs754563807 0.00003
NM_015374.3(SUN2):c.168G>A (p.Ala56=) rs561928372 0.00002
NM_015374.3(SUN2):c.304C>T (p.Arg102Trp) rs146324000 0.00002
NM_015374.3(SUN2):c.333G>A (p.Glu111=) rs772494839 0.00002
NM_015374.3(SUN2):c.420C>T (p.Tyr140=) rs201604103 0.00002
NM_015374.3(SUN2):c.425-3C>A rs368321480 0.00002
NM_015374.3(SUN2):c.516G>A (p.Ser172=) rs545823498 0.00002
NM_015374.3(SUN2):c.542A>G (p.Tyr181Cys) rs776343176 0.00002
NM_015374.3(SUN2):c.583G>C (p.Ala195Pro) rs778335481 0.00002
NM_015374.3(SUN2):c.615-2A>G rs1272584066 0.00002
NM_015374.3(SUN2):c.633G>A (p.Lys211=) rs1347064197 0.00002
NM_015374.3(SUN2):c.741C>T (p.Ser247=) rs1342698251 0.00002
NM_015374.3(SUN2):c.109G>A (p.Asp37Asn) rs569556638 0.00001
NM_015374.3(SUN2):c.231G>A (p.Glu77=) rs760297349 0.00001
NM_015374.3(SUN2):c.247A>G (p.Arg83Gly) rs1474913633 0.00001
NM_015374.3(SUN2):c.269A>G (p.His90Arg) rs2092943342 0.00001
NM_015374.3(SUN2):c.282C>A (p.Asn94Lys) rs750454076 0.00001
NM_015374.3(SUN2):c.342G>A (p.Arg114=) rs773389007 0.00001
NM_015374.3(SUN2):c.357G>A (p.Val119=) rs1603229883 0.00001
NM_015374.3(SUN2):c.361C>T (p.Arg121Cys) rs201794535 0.00001
NM_015374.3(SUN2):c.364A>G (p.Lys122Glu) rs746753110 0.00001
NM_015374.3(SUN2):c.41G>T (p.Gly14Val) rs1461986386 0.00001
NM_015374.3(SUN2):c.421G>A (p.Val141Met) rs1435451030 0.00001
NM_015374.3(SUN2):c.425-12C>T rs773495171 0.00001
NM_015374.3(SUN2):c.474C>T (p.Ala158=) rs1211809169 0.00001
NM_015374.3(SUN2):c.504G>A (p.Met168Ile) rs779478954 0.00001
NM_015374.3(SUN2):c.515C>T (p.Ser172Leu) rs760739182 0.00001
NM_015374.3(SUN2):c.549G>A (p.Trp183Ter) rs746473215 0.00001
NM_015374.3(SUN2):c.57C>T (p.Ser19=) rs374169188 0.00001
NM_015374.3(SUN2):c.603C>T (p.Phe201=) rs1048872109 0.00001
NM_015374.3(SUN2):c.728C>T (p.Pro243Leu) rs2092899305 0.00001
NM_015374.3(SUN2):c.759C>G (p.Asp253Glu) rs375173070 0.00001
NM_015374.3(SUN2):c.77C>T (p.Ser26Leu) rs150683665 0.00001
NM_015374.3(SUN2):c.122+17G>A
NM_015374.3(SUN2):c.123-14T>C rs759683752
NM_015374.3(SUN2):c.123-19C>G rs767573606
NM_015374.3(SUN2):c.126C>A (p.Thr42=)
NM_015374.3(SUN2):c.154C>T (p.Arg52Cys)
NM_015374.3(SUN2):c.165A>C (p.Pro55=)
NM_015374.3(SUN2):c.167C>T (p.Ala56Val)
NM_015374.3(SUN2):c.182C>T (p.Pro61Leu)
NM_015374.3(SUN2):c.183G>A (p.Pro61=)
NM_015374.3(SUN2):c.185C>G (p.Ser62Cys)
NM_015374.3(SUN2):c.19C>T (p.Arg7Cys)
NM_015374.3(SUN2):c.20G>A (p.Arg7His)
NM_015374.3(SUN2):c.218C>T (p.Ser73Leu)
NM_015374.3(SUN2):c.229G>A (p.Glu77Lys)
NM_015374.3(SUN2):c.233C>T (p.Ser78Phe)
NM_015374.3(SUN2):c.245C>A (p.Pro82His) rs2092943711
NM_015374.3(SUN2):c.247A>C (p.Arg83=) rs1474913633
NM_015374.3(SUN2):c.252C>T (p.Ser84=)
NM_015374.3(SUN2):c.254C>A (p.Ser85Tyr)
NM_015374.3(SUN2):c.255C>G (p.Ser85=)
NM_015374.3(SUN2):c.261G>A (p.Glu87=)
NM_015374.3(SUN2):c.265_266delinsTG (p.Leu89Trp)
NM_015374.3(SUN2):c.284G>A (p.Trp95Ter)
NM_015374.3(SUN2):c.286+12G>T rs2146081428
NM_015374.3(SUN2):c.286+19G>A
NM_015374.3(SUN2):c.286+3G>C rs539528181
NM_015374.3(SUN2):c.287-17G>C
NM_015374.3(SUN2):c.287-7T>C rs1603230014
NM_015374.3(SUN2):c.299G>A (p.Arg100Gln)
NM_015374.3(SUN2):c.29G>A (p.Arg10His)
NM_015374.3(SUN2):c.305G>A (p.Arg102Gln)
NM_015374.3(SUN2):c.306G>A (p.Arg102=)
NM_015374.3(SUN2):c.306GAG[2] (p.Arg105del) rs774003824
NM_015374.3(SUN2):c.309G>T (p.Arg103Ser)
NM_015374.3(SUN2):c.311G>A (p.Arg104Lys)
NM_015374.3(SUN2):c.320C>G (p.Thr107Arg) rs775966191
NM_015374.3(SUN2):c.321G>A (p.Thr107=)
NM_015374.3(SUN2):c.348C>T (p.Ser116=)
NM_015374.3(SUN2):c.374A>C (p.Glu125Ala)
NM_015374.3(SUN2):c.405C>T (p.Ser135=)
NM_015374.3(SUN2):c.415G>A (p.Asp139Asn) rs764864329
NM_015374.3(SUN2):c.425-3C>T rs368321480
NM_015374.3(SUN2):c.425-4G>T
NM_015374.3(SUN2):c.437T>C (p.Val146Ala)
NM_015374.3(SUN2):c.437T>G (p.Val146Gly) rs777319339
NM_015374.3(SUN2):c.449G>C (p.Ser150Thr)
NM_015374.3(SUN2):c.450T>C (p.Ser150=)
NM_015374.3(SUN2):c.451T>G (p.Ser151Ala)
NM_015374.3(SUN2):c.452C>G (p.Ser151Cys)
NM_015374.3(SUN2):c.460C>T (p.Arg154Trp) rs150906372
NM_015374.3(SUN2):c.470G>A (p.Ser157Asn) rs1556013290
NM_015374.3(SUN2):c.482G>A (p.Arg161Gln)
NM_015374.3(SUN2):c.486G>A (p.Ala162=)
NM_015374.3(SUN2):c.520+14C>T
NM_015374.3(SUN2):c.520+18C>G
NM_015374.3(SUN2):c.520G>C (p.Gly174Arg) rs1390604251
NM_015374.3(SUN2):c.521-20C>T
NM_015374.3(SUN2):c.524G>A (p.Arg175Gln)
NM_015374.3(SUN2):c.52_57dup (p.Ser19_Ser20insGlySer)
NM_015374.3(SUN2):c.539T>C (p.Leu180Pro) rs2092930754
NM_015374.3(SUN2):c.544T>C (p.Trp182Arg)
NM_015374.3(SUN2):c.550G>T (p.Ala184Ser) rs2092930608
NM_015374.3(SUN2):c.55A>G (p.Ser19Gly)
NM_015374.3(SUN2):c.55AGC[3] (p.Ser22del) rs781129819
NM_015374.3(SUN2):c.561C>G (p.Thr187=) rs775025047
NM_015374.3(SUN2):c.567C>T (p.Tyr189=)
NM_015374.3(SUN2):c.569G>T (p.Arg190Leu) rs149088273
NM_015374.3(SUN2):c.614+14C>T
NM_015374.3(SUN2):c.614+18C>T
NM_015374.3(SUN2):c.614+3G>A rs2146065638
NM_015374.3(SUN2):c.615-12C>T
NM_015374.3(SUN2):c.617G>T (p.Arg206Leu) rs568825133
NM_015374.3(SUN2):c.619T>C (p.Phe207Leu)
NM_015374.3(SUN2):c.628C>T (p.Leu210=)
NM_015374.3(SUN2):c.66C>T (p.Ser22=)
NM_015374.3(SUN2):c.671C>T (p.Thr224Met)
NM_015374.3(SUN2):c.686-13C>G
NM_015374.3(SUN2):c.686-13C>T
NM_015374.3(SUN2):c.688G>C (p.Ala230Pro)
NM_015374.3(SUN2):c.697T>A (p.Phe233Ile)
NM_015374.3(SUN2):c.705C>T (p.Pro235=)
NM_015374.3(SUN2):c.736G>A (p.Val246Ile)
NM_015374.3(SUN2):c.74G>A (p.Ser25Asn)
NM_015374.3(SUN2):c.752C>G (p.Ala251Gly) rs1051031562
NM_015374.3(SUN2):c.752C>T (p.Ala251Val)
NM_015374.3(SUN2):c.753G>A (p.Ala251=)
NM_015374.3(SUN2):c.771G>A (p.Pro257=)
NM_015374.3(SUN2):c.778G>A (p.Gly260Ser)
NM_015374.3(SUN2):c.78G>A (p.Ser26=) rs757655044
NM_015374.3(SUN2):c.78G>T (p.Ser26=)
NM_015374.3(SUN2):c.791G>A (p.Arg264Lys) rs901495726
NM_015374.3(SUN2):c.799T>C (p.Ser267Pro)
NM_015374.3(SUN2):c.801G>A (p.Ser267=)
NM_015374.3(SUN2):c.92A>G (p.Gln31Arg)

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