ClinVar Miner

List of variants in gene EMC1 studied for Inborn genetic diseases

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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_015047.3(EMC1):c.2054G>A (p.Arg685Gln) rs149861361 0.00052
NM_015047.3(EMC1):c.1109A>G (p.Asn370Ser) rs144675935 0.00026
NM_015047.3(EMC1):c.717C>G (p.Asp239Glu) rs41302030 0.00026
NM_015047.3(EMC1):c.305A>G (p.Asn102Ser) rs371844391 0.00016
NM_015047.3(EMC1):c.2249C>T (p.Ala750Val) rs149268308 0.00014
NM_015047.3(EMC1):c.2749T>A (p.Ser917Thr) rs529971469 0.00014
NM_015047.3(EMC1):c.2038C>T (p.Arg680Trp) rs748488738 0.00013
NM_015047.3(EMC1):c.2415T>G (p.Phe805Leu) rs187230046 0.00012
NM_015047.3(EMC1):c.2060G>A (p.Arg687Gln) rs374969388 0.00010
NM_015047.3(EMC1):c.2432A>G (p.Tyr811Cys) rs146394541 0.00009
NM_015047.3(EMC1):c.577C>G (p.Pro193Ala) rs571872104 0.00009
NM_015047.3(EMC1):c.2039G>A (p.Arg680Gln) rs748843419 0.00008
NM_015047.3(EMC1):c.2248G>A (p.Ala750Thr) rs148338469 0.00008
NM_015047.3(EMC1):c.912G>T (p.Gln304His) rs537594873 0.00008
NM_015047.3(EMC1):c.1052G>C (p.Gly351Ala) rs370803621 0.00007
NM_015047.3(EMC1):c.61G>A (p.Ala21Thr) rs11558182 0.00007
NM_015047.3(EMC1):c.1782+3G>A rs150389135 0.00006
NM_015047.3(EMC1):c.2404C>T (p.Arg802Cys) rs372151221 0.00006
NM_015047.3(EMC1):c.446C>A (p.Thr149Asn) rs142661057 0.00006
NM_015047.3(EMC1):c.2053C>T (p.Arg685Trp) rs550787407 0.00005
NM_015047.3(EMC1):c.530T>C (p.Met177Thr) rs749436505 0.00005
NM_015047.3(EMC1):c.544G>A (p.Gly182Ser) rs201096584 0.00005
NM_015047.3(EMC1):c.2025T>G (p.Asp675Glu) rs773767036 0.00004
NM_015047.3(EMC1):c.2780C>T (p.Ser927Leu) rs756676817 0.00004
NM_015047.3(EMC1):c.2978G>A (p.Arg993Gln) rs141380621 0.00004
NM_015047.3(EMC1):c.823C>T (p.Arg275Trp) rs149183157 0.00004
NM_015047.3(EMC1):c.980C>G (p.Thr327Ser) rs558044673 0.00004
NM_015047.3(EMC1):c.1070C>T (p.Ser357Leu) rs201276598 0.00003
NM_015047.3(EMC1):c.1138G>A (p.Val380Met) rs534077257 0.00003
NM_015047.3(EMC1):c.2105C>A (p.Pro702Gln) rs781072054 0.00003
NM_015047.3(EMC1):c.2839G>A (p.Val947Ile) rs766662046 0.00003
NM_015047.3(EMC1):c.347G>T (p.Gly116Val) rs756243435 0.00003
NM_015047.3(EMC1):c.109G>T (p.Val37Phe) rs1305019836 0.00002
NM_015047.3(EMC1):c.1258C>T (p.Arg420Trp) rs147189826 0.00002
NM_015047.3(EMC1):c.1466C>T (p.Ser489Leu) rs749905447 0.00002
NM_015047.3(EMC1):c.19T>C (p.Ser7Pro) rs370530522 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_015047.3(EMC1):c.2752C>G (p.Arg918Gly) rs139335524 0.00002
NM_015047.3(EMC1):c.713C>T (p.Pro238Leu) rs199964251 0.00002
NM_015047.3(EMC1):c.737A>C (p.Gln246Pro) rs200901424 0.00002
NM_015047.3(EMC1):c.845A>G (p.Asn282Ser) rs749555107 0.00002
NM_015047.3(EMC1):c.1016G>A (p.Arg339Gln) rs756078343 0.00001
NM_015047.3(EMC1):c.1028A>G (p.Gln343Arg) rs2093585767 0.00001
NM_015047.3(EMC1):c.1120A>G (p.Thr374Ala) rs1558106718 0.00001
NM_015047.3(EMC1):c.1150C>T (p.Arg384Trp) rs759816328 0.00001
NM_015047.3(EMC1):c.1151G>A (p.Arg384Gln) rs751544107 0.00001
NM_015047.3(EMC1):c.128C>T (p.Ala43Val) rs754225597 0.00001
NM_015047.3(EMC1):c.1327T>C (p.Trp443Arg) rs371025215 0.00001
NM_015047.3(EMC1):c.1526C>T (p.Ala509Val) rs2093535894 0.00001
NM_015047.3(EMC1):c.155A>G (p.Lys52Arg) rs201537299 0.00001
NM_015047.3(EMC1):c.1605G>T (p.Met535Ile) rs753353617 0.00001
NM_015047.3(EMC1):c.1616T>C (p.Val539Ala) rs1234115482 0.00001
NM_015047.3(EMC1):c.1783-8C>A rs1323481821 0.00001
NM_015047.3(EMC1):c.1862G>A (p.Arg621His) rs368763123 0.00001
NM_015047.3(EMC1):c.1967G>A (p.Arg656Gln) rs369860477 0.00001
NM_015047.3(EMC1):c.1999C>T (p.Pro667Ser) rs763793904 0.00001
NM_015047.3(EMC1):c.2008T>C (p.Phe670Leu) rs2275402 0.00001
NM_015047.3(EMC1):c.2140C>T (p.Arg714Cys) rs772294287 0.00001
NM_015047.3(EMC1):c.2155G>A (p.Val719Ile) rs1052665530 0.00001
NM_015047.3(EMC1):c.2540T>C (p.Met847Thr) rs770184000 0.00001
NM_015047.3(EMC1):c.2576G>A (p.Arg859Gln) rs761754934 0.00001
NM_015047.3(EMC1):c.2617C>T (p.Leu873Phe) rs769048812 0.00001
NM_015047.3(EMC1):c.2837G>A (p.Arg946Gln) rs374448290 0.00001
NM_015047.3(EMC1):c.2840T>A (p.Val947Asp) rs758659439 0.00001
NM_015047.3(EMC1):c.340A>G (p.Ile114Val) rs952391056 0.00001
NM_015047.3(EMC1):c.343G>A (p.Gly115Arg) rs749646972 0.00001
NM_015047.3(EMC1):c.41C>T (p.Thr14Met) rs377281530 0.00001
NM_015047.3(EMC1):c.464A>T (p.His155Leu) rs752316981 0.00001
NM_015047.3(EMC1):c.509+6G>A rs775830695 0.00001
NM_015047.3(EMC1):c.531G>A (p.Met177Ile) rs773011767 0.00001
NM_015047.3(EMC1):c.797T>G (p.Leu266Ter) rs1277233450 0.00001
NM_015047.3(EMC1):c.862C>T (p.Arg288Trp) rs751352541 0.00001
NM_015047.3(EMC1):c.881A>C (p.His294Pro) rs772900959 0.00001
NM_015047.3(EMC1):c.8C>T (p.Ala3Val) rs552276163 0.00001
NM_015047.3(EMC1):c.101A>G (p.Gln34Arg) rs2151963886
NM_015047.3(EMC1):c.1027C>G (p.Gln343Glu) rs2093585781
NM_015047.3(EMC1):c.1058T>A (p.Met353Lys) rs200708107
NM_015047.3(EMC1):c.1082G>A (p.Ser361Asn) rs1411324984
NM_015047.3(EMC1):c.1154G>A (p.Arg385Gln) rs773121209
NM_015047.3(EMC1):c.1249G>A (p.Val417Met) rs149732850
NM_015047.3(EMC1):c.1424A>G (p.Lys475Arg)
NM_015047.3(EMC1):c.1478T>A (p.Ile493Asn)
NM_015047.3(EMC1):c.1478T>C (p.Ile493Thr) rs941950774
NM_015047.3(EMC1):c.1515G>A (p.Met505Ile) rs2093536003
NM_015047.3(EMC1):c.1666C>G (p.Leu556Val)
NM_015047.3(EMC1):c.1751C>A (p.Pro584His) rs1553252938
NM_015047.3(EMC1):c.1830G>T (p.Lys610Asn) rs780784852
NM_015047.3(EMC1):c.1907A>G (p.Tyr636Cys)
NM_015047.3(EMC1):c.2105C>G (p.Pro702Arg)
NM_015047.3(EMC1):c.2122G>A (p.Val708Ile) rs139714938
NM_015047.3(EMC1):c.2180G>T (p.Gly727Val) rs2536696878
NM_015047.3(EMC1):c.2261G>A (p.Arg754His)
NM_015047.3(EMC1):c.2261G>T (p.Arg754Leu) rs971300635
NM_015047.3(EMC1):c.2311C>G (p.His771Asp)
NM_015047.3(EMC1):c.2377-2A>G rs2093442517
NM_015047.3(EMC1):c.2402G>A (p.Arg801Gln) rs756154938
NM_015047.3(EMC1):c.2419G>A (p.Val807Ile) rs561638764
NM_015047.3(EMC1):c.2773G>A (p.Ala925Thr) rs1267820277
NM_015047.3(EMC1):c.2789A>C (p.Glu930Ala) rs2536637323
NM_015047.3(EMC1):c.2936C>T (p.Thr979Ile) rs770471010
NM_015047.3(EMC1):c.598G>A (p.Val200Ile)
NM_015047.3(EMC1):c.653C>T (p.Pro218Leu) rs766355680
NM_015047.3(EMC1):c.659T>C (p.Leu220Pro) rs2536785128
NM_015047.3(EMC1):c.671C>G (p.Ser224Cys) rs1280801312
NM_015047.3(EMC1):c.850G>T (p.Val284Leu) rs771525883
NM_015047.3(EMC1):c.853G>A (p.Asp285Asn) rs1428914211
NM_015047.3(EMC1):c.868C>A (p.Gln290Lys) rs2093593919
NM_015047.3(EMC1):c.880C>T (p.His294Tyr)

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