ClinVar Miner

List of variants in gene EMILIN1 studied for Inborn genetic diseases

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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_007046.4(EMILIN1):c.1622G>A (p.Arg541Gln) rs138622931 0.00161
NM_007046.4(EMILIN1):c.2051G>A (p.Arg684His) rs762417381 0.00035
NM_007046.4(EMILIN1):c.1781G>A (p.Arg594His) rs200339477 0.00029
NM_007046.4(EMILIN1):c.1768G>A (p.Glu590Lys) rs139944533 0.00015
NM_007046.4(EMILIN1):c.101G>T (p.Gly34Val) rs534023088 0.00014
NM_007046.4(EMILIN1):c.2578G>C (p.Val860Leu) rs113364468 0.00011
NM_007046.4(EMILIN1):c.2716G>A (p.Val906Met) rs113665219 0.00011
NM_007046.4(EMILIN1):c.2243G>A (p.Arg748His) rs199664509 0.00009
NM_007046.4(EMILIN1):c.1189C>T (p.Pro397Ser) rs749283395 0.00008
NM_007046.4(EMILIN1):c.910G>A (p.Val304Met) rs757827761 0.00008
NM_007046.4(EMILIN1):c.1828C>T (p.Arg610Trp) rs553403745 0.00007
NM_007046.4(EMILIN1):c.2365C>T (p.Arg789Trp) rs766286890 0.00007
NM_007046.4(EMILIN1):c.2186G>A (p.Arg729His) rs144332637 0.00006
NM_007046.4(EMILIN1):c.407C>T (p.Ala136Val) rs751650342 0.00006
NM_007046.4(EMILIN1):c.1582C>T (p.Arg528Trp) rs752561430 0.00005
NM_007046.4(EMILIN1):c.47C>T (p.Thr16Met) rs777527430 0.00005
NM_007046.4(EMILIN1):c.1250C>T (p.Thr417Ile) rs755321231 0.00004
NM_007046.4(EMILIN1):c.1460G>A (p.Gly487Glu) rs769135390 0.00004
NM_007046.4(EMILIN1):c.431C>T (p.Pro144Leu) rs543461603 0.00004
NM_007046.4(EMILIN1):c.1144C>T (p.Arg382Trp) rs754003382 0.00003
NM_007046.4(EMILIN1):c.1192C>G (p.Pro398Ala) rs770845075 0.00003
NM_007046.4(EMILIN1):c.2092G>C (p.Glu698Gln) rs777716629 0.00003
NM_007046.4(EMILIN1):c.2336T>A (p.Leu779Gln) rs373651073 0.00003
NM_007046.4(EMILIN1):c.2408G>A (p.Arg803His) rs534098431 0.00003
NM_007046.4(EMILIN1):c.275G>A (p.Cys92Tyr) rs373813125 0.00003
NM_007046.4(EMILIN1):c.496G>C (p.Gly166Arg) rs914597689 0.00003
NM_007046.4(EMILIN1):c.1246T>A (p.Ser416Thr) rs1420961097 0.00002
NM_007046.4(EMILIN1):c.1278G>C (p.Glu426Asp) rs748766902 0.00002
NM_007046.4(EMILIN1):c.1304T>C (p.Leu435Pro) rs772037121 0.00002
NM_007046.4(EMILIN1):c.154C>A (p.Pro52Thr) rs765023976 0.00002
NM_007046.4(EMILIN1):c.2414A>G (p.His805Arg) rs376594162 0.00002
NM_007046.4(EMILIN1):c.455G>A (p.Arg152His) rs1285868967 0.00002
NM_007046.4(EMILIN1):c.64G>A (p.Ala22Thr) rs753862645 0.00002
NM_007046.4(EMILIN1):c.1006C>T (p.Arg336Trp) rs779526140 0.00001
NM_007046.4(EMILIN1):c.1012C>T (p.Arg338Trp) rs1452922256 0.00001
NM_007046.4(EMILIN1):c.1244A>C (p.Asn415Thr) rs763380312 0.00001
NM_007046.4(EMILIN1):c.1750G>A (p.Ala584Thr) rs1271164958 0.00001
NM_007046.4(EMILIN1):c.1802G>A (p.Arg601His) rs752203222 0.00001
NM_007046.4(EMILIN1):c.1808C>T (p.Ser603Phe) rs534036052 0.00001
NM_007046.4(EMILIN1):c.1943C>T (p.Ser648Phe) rs1176609847 0.00001
NM_007046.4(EMILIN1):c.2434C>T (p.Leu812Phe) rs866474354 0.00001
NM_007046.4(EMILIN1):c.2447C>A (p.Ala816Glu) rs747523819 0.00001
NM_007046.4(EMILIN1):c.2654G>A (p.Gly885Asp) rs747930612 0.00001
NM_007046.4(EMILIN1):c.352T>G (p.Trp118Gly) rs1432706784 0.00001
NM_007046.4(EMILIN1):c.376G>A (p.Gly126Ser) rs770482130 0.00001
NM_007046.4(EMILIN1):c.434G>A (p.Arg145Gln) rs564957235 0.00001
NM_007046.4(EMILIN1):c.440T>C (p.Leu147Pro) rs1669461631 0.00001
NM_007046.4(EMILIN1):c.809G>A (p.Ser270Asn) rs1379193231 0.00001
NM_007046.4(EMILIN1):c.997G>A (p.Val333Met) rs548088890 0.00001
NM_007046.4(EMILIN1):c.1013G>A (p.Arg338Gln)
NM_007046.4(EMILIN1):c.1036G>C (p.Gly346Arg)
NM_007046.4(EMILIN1):c.1040G>T (p.Arg347Leu) rs746703619
NM_007046.4(EMILIN1):c.1096G>A (p.Glu366Lys)
NM_007046.4(EMILIN1):c.10C>G (p.Arg4Gly) rs757030616
NM_007046.4(EMILIN1):c.1114G>A (p.Val372Met)
NM_007046.4(EMILIN1):c.1120G>A (p.Gly374Ser) rs760821968
NM_007046.4(EMILIN1):c.1120G>T (p.Gly374Cys) rs760821968
NM_007046.4(EMILIN1):c.1171G>A (p.Ala391Thr) rs188761759
NM_007046.4(EMILIN1):c.1171G>T (p.Ala391Ser)
NM_007046.4(EMILIN1):c.1172C>T (p.Ala391Val)
NM_007046.4(EMILIN1):c.1217G>T (p.Arg406Leu) rs552677456
NM_007046.4(EMILIN1):c.1262C>T (p.Ser421Leu)
NM_007046.4(EMILIN1):c.1325C>T (p.Ala442Val)
NM_007046.4(EMILIN1):c.1328G>A (p.Arg443Gln)
NM_007046.4(EMILIN1):c.1348G>A (p.Gly450Arg) rs570508845
NM_007046.4(EMILIN1):c.1352G>T (p.Gly451Val)
NM_007046.4(EMILIN1):c.1379T>A (p.Leu460Gln) rs1422740806
NM_007046.4(EMILIN1):c.1460G>C (p.Gly487Ala)
NM_007046.4(EMILIN1):c.1483G>A (p.Glu495Lys)
NM_007046.4(EMILIN1):c.1567G>A (p.Ala523Thr)
NM_007046.4(EMILIN1):c.164G>A (p.Arg55His)
NM_007046.4(EMILIN1):c.1733G>A (p.Gly578Glu) rs778758313
NM_007046.4(EMILIN1):c.1753T>C (p.Cys585Arg)
NM_007046.4(EMILIN1):c.1841C>G (p.Ala614Gly)
NM_007046.4(EMILIN1):c.1859G>T (p.Gly620Val) rs1669522923
NM_007046.4(EMILIN1):c.187G>A (p.Val63Met) rs762850615
NM_007046.4(EMILIN1):c.1882G>A (p.Gly628Ser)
NM_007046.4(EMILIN1):c.1891G>A (p.Val631Met)
NM_007046.4(EMILIN1):c.1963A>G (p.Ser655Gly) rs201549569
NM_007046.4(EMILIN1):c.1967C>T (p.Ser656Phe)
NM_007046.4(EMILIN1):c.19T>C (p.Trp7Arg)
NM_007046.4(EMILIN1):c.2117G>A (p.Arg706His)
NM_007046.4(EMILIN1):c.2152G>A (p.Gly718Ser)
NM_007046.4(EMILIN1):c.2263G>A (p.Val755Met)
NM_007046.4(EMILIN1):c.2297A>C (p.Asn766Thr) rs1025098049
NM_007046.4(EMILIN1):c.2323C>G (p.Leu775Val)
NM_007046.4(EMILIN1):c.2330A>G (p.Glu777Gly) rs2465597240
NM_007046.4(EMILIN1):c.2342G>A (p.Gly781Glu)
NM_007046.4(EMILIN1):c.2342G>C (p.Gly781Ala) rs760380562
NM_007046.4(EMILIN1):c.2351C>T (p.Ala784Val) rs761282085
NM_007046.4(EMILIN1):c.2354G>A (p.Gly785Asp)
NM_007046.4(EMILIN1):c.235T>C (p.Tyr79His)
NM_007046.4(EMILIN1):c.2415C>A (p.His805Gln) rs2465597443
NM_007046.4(EMILIN1):c.2534A>T (p.Gln845Leu)
NM_007046.4(EMILIN1):c.263G>T (p.Gly88Val)
NM_007046.4(EMILIN1):c.2650C>T (p.Pro884Ser)
NM_007046.4(EMILIN1):c.26G>A (p.Cys9Tyr)
NM_007046.4(EMILIN1):c.2749C>G (p.Leu917Val)
NM_007046.4(EMILIN1):c.299G>A (p.Arg100His)
NM_007046.4(EMILIN1):c.3034G>C (p.Glu1012Gln)
NM_007046.4(EMILIN1):c.343G>A (p.Asp115Asn)
NM_007046.4(EMILIN1):c.365A>C (p.Gln122Pro)
NM_007046.4(EMILIN1):c.379G>A (p.Asp127Asn)
NM_007046.4(EMILIN1):c.461A>G (p.Asn154Ser) rs559197713
NM_007046.4(EMILIN1):c.481G>T (p.Gly161Cys)
NM_007046.4(EMILIN1):c.485G>A (p.Ser162Asn)
NM_007046.4(EMILIN1):c.613C>A (p.Arg205Ser) rs762720183
NM_007046.4(EMILIN1):c.625G>C (p.Asp209His)
NM_007046.4(EMILIN1):c.633G>C (p.Gln211His)
NM_007046.4(EMILIN1):c.751G>T (p.Val251Phe) rs530303705
NM_007046.4(EMILIN1):c.7C>A (p.Pro3Thr) rs2465585805
NM_007046.4(EMILIN1):c.817G>A (p.Gly273Ser)
NM_007046.4(EMILIN1):c.836C>G (p.Pro279Arg)
NM_007046.4(EMILIN1):c.851C>T (p.Pro284Leu)
NM_007046.4(EMILIN1):c.875G>A (p.Arg292Gln)
NM_007046.4(EMILIN1):c.919G>C (p.Ala307Pro) rs746168057
NM_007046.4(EMILIN1):c.974C>T (p.Ala325Val)

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