ClinVar Miner

List of variants in gene SUN2 reported as uncertain significance for Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_015374.3(SUN2):c.424+6C>T rs199843484 0.00088
NM_015374.3(SUN2):c.166G>C (p.Ala56Pro) rs137966643 0.00041
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.172C>A (p.Gln58Lys) rs375796599 0.00014
NM_015374.3(SUN2):c.475G>A (p.Val159Ile) rs201453554 0.00013
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.472G>A (p.Ala158Thr) rs199600089 0.00006
NM_015374.3(SUN2):c.616C>A (p.Arg206Ser) rs150381950 0.00006
NM_015374.3(SUN2):c.8G>A (p.Arg3Gln) rs764750687 0.00005
NM_015374.3(SUN2):c.800C>T (p.Ser267Leu) rs200092509 0.00004
NM_015374.3(SUN2):c.231G>C (p.Glu77Asp) rs760297349 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.304C>T (p.Arg102Trp) rs146324000 0.00002
NM_015374.3(SUN2):c.425-3C>A rs368321480 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.109G>A (p.Asp37Asn) rs569556638 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.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.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.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.154C>T (p.Arg52Cys)
NM_015374.3(SUN2):c.167C>T (p.Ala56Val)
NM_015374.3(SUN2):c.182C>T (p.Pro61Leu)
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.245C>A (p.Pro82His) rs2092943711
NM_015374.3(SUN2):c.254C>A (p.Ser85Tyr)
NM_015374.3(SUN2):c.286+3G>C rs539528181
NM_015374.3(SUN2):c.299G>A (p.Arg100Gln)
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.415G>A (p.Asp139Asn) rs764864329
NM_015374.3(SUN2):c.425-3C>T rs368321480
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.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.520G>C (p.Gly174Arg) rs1390604251
NM_015374.3(SUN2):c.539T>C (p.Leu180Pro) rs2092930754
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.569G>T (p.Arg190Leu) rs149088273
NM_015374.3(SUN2):c.614+3G>A rs2146065638
NM_015374.3(SUN2):c.617G>T (p.Arg206Leu) rs568825133
NM_015374.3(SUN2):c.671C>T (p.Thr224Met)
NM_015374.3(SUN2):c.688G>C (p.Ala230Pro)
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.778G>A (p.Gly260Ser)
NM_015374.3(SUN2):c.791G>A (p.Arg264Lys) rs901495726
NM_015374.3(SUN2):c.799T>C (p.Ser267Pro)
NM_015374.3(SUN2):c.92A>G (p.Gln31Arg)

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