ClinVar Miner

List of variants in gene ERF studied for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_006494.4(ERF):c.1230T>C (p.Ala410=) rs35493131 0.08759
NM_006494.4(ERF):c.981C>T (p.Ser327=) rs61735151 0.05337
NM_006494.4(ERF):c.1104T>C (p.Ser368=) rs76105803 0.03247
NM_006494.4(ERF):c.1244C>T (p.Ala415Val) rs139842507 0.01177
NM_006494.4(ERF):c.24G>A (p.Gly8=) rs200969503 0.00135
NM_006494.4(ERF):c.1192G>A (p.Gly398Ser) rs111793182 0.00133
NM_006494.4(ERF):c.1057A>G (p.Met353Val) rs149405304 0.00085
NM_006494.4(ERF):c.1046C>T (p.Pro349Leu) rs144812092 0.00058
NM_006494.4(ERF):c.840G>A (p.Ser280=) rs145699948 0.00053
NM_006494.4(ERF):c.1262C>T (p.Pro421Leu) rs533363033 0.00043
NM_006494.4(ERF):c.659C>A (p.Pro220His) rs200767779 0.00043
NM_006494.4(ERF):c.405G>A (p.Val135=) rs144678577 0.00041
NM_006494.4(ERF):c.257+8C>T rs137956794 0.00033
NM_006494.4(ERF):c.1614G>A (p.Thr538=) rs183334082 0.00030
NM_006494.4(ERF):c.673C>T (p.Leu225=) rs35578793 0.00029
NM_006494.4(ERF):c.264C>T (p.Tyr88=) rs140522983 0.00022
NM_006494.4(ERF):c.1263G>C (p.Pro421=) rs750423382 0.00009
NM_006494.4(ERF):c.1152C>T (p.Leu384=) rs772786203 0.00005
NM_006494.4(ERF):c.36G>A (p.Pro12=) rs371076249 0.00005
NM_006494.4(ERF):c.885C>T (p.Ser295=) rs758048419 0.00005
NM_006494.4(ERF):c.132C>T (p.Gly44=) rs192294053 0.00004
NM_006494.4(ERF):c.1461C>T (p.Arg487=) rs371796869 0.00004
NM_006494.4(ERF):c.450C>T (p.Ser150=) rs747218945 0.00004
NM_006494.4(ERF):c.514C>T (p.Leu172Phe) rs763588724 0.00004
NM_006494.4(ERF):c.1222G>A (p.Gly408Arg) rs764764288 0.00003
NM_006494.4(ERF):c.1478G>A (p.Arg493His) rs762382429 0.00003
NM_006494.4(ERF):c.819C>T (p.Thr273=) rs200872722 0.00003
NM_006494.4(ERF):c.1052C>T (p.Pro351Leu) rs376130330 0.00002
NM_006494.4(ERF):c.1201A>G (p.Lys401Glu) rs753010203 0.00002
NM_006494.4(ERF):c.208C>T (p.Arg70Cys) rs756869919 0.00002
NM_006494.4(ERF):c.830A>G (p.Tyr277Cys) rs753014847 0.00002
NM_006494.4(ERF):c.1300G>A (p.Glu434Lys) rs749808726 0.00001
NM_006494.4(ERF):c.247C>A (p.Arg83=) rs766762597 0.00001
NM_006494.4(ERF):c.247C>T (p.Arg83Trp) rs766762597 0.00001
NM_006494.4(ERF):c.373+8C>T rs368794183 0.00001
NM_006494.4(ERF):c.652C>T (p.Arg218Ter) rs1425504754 0.00001
NM_006494.4(ERF):c.824T>C (p.Leu275Pro) rs756557668 0.00001
NC_000019.9:g.(?_42759120)_42759196del
NM_006494.4(ERF):c.-44_22+11del rs1568475667
NM_006494.4(ERF):c.1021del (p.Gln341fs)
NM_006494.4(ERF):c.1030C>G (p.Arg344Gly) rs1395870549
NM_006494.4(ERF):c.1049del (p.Leu350fs) rs2036390617
NM_006494.4(ERF):c.1072_1073del (p.Pro358fs) rs1064796715
NM_006494.4(ERF):c.1104TTC[3] (p.Ser373del) rs199960550
NM_006494.4(ERF):c.110T>C (p.Leu37Pro) rs2036426238
NM_006494.4(ERF):c.1143G>T (p.Pro381=)
NM_006494.4(ERF):c.1191C>T (p.Ala397=)
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006494.4(ERF):c.1243_1245del (p.Ala415del) rs759202471
NM_006494.4(ERF):c.1270C>T (p.Gln424Ter) rs587777010
NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs) rs2146948133
NM_006494.4(ERF):c.1372C>G (p.Arg458Gly) rs766642440
NM_006494.4(ERF):c.1372C>T (p.Arg458Cys)
NM_006494.4(ERF):c.1386A>G (p.Ala462=)
NM_006494.4(ERF):c.144G>A (p.Trp48Ter) rs2036425705
NM_006494.4(ERF):c.1500del (p.Ala501fs)
NM_006494.4(ERF):c.1602C>T (p.Leu534=) rs2146947253
NM_006494.4(ERF):c.194G>A (p.Arg65Gln) rs587777009
NM_006494.4(ERF):c.199T>G (p.Trp67Gly) rs141468833
NM_006494.4(ERF):c.1A>G (p.Met1Val) rs864321681
NM_006494.4(ERF):c.22+2T>G rs2146960176
NM_006494.4(ERF):c.223C>T (p.Gln75Ter) rs1568472771
NM_006494.4(ERF):c.226A>G (p.Met76Val)
NM_006494.4(ERF):c.23-2A>G rs864321680
NM_006494.4(ERF):c.23-9C>T
NM_006494.4(ERF):c.234C>T (p.Tyr78=)
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
NM_006494.4(ERF):c.257G>A (p.Arg86His) rs765295141
NM_006494.4(ERF):c.272dup (p.Arg92fs)
NM_006494.4(ERF):c.281T>C (p.Leu94Pro)
NM_006494.4(ERF):c.286A>T (p.Lys96Ter) rs1599823350
NM_006494.4(ERF):c.355A>C (p.Ile119Leu)
NM_006494.4(ERF):c.374-16G>A
NM_006494.4(ERF):c.383T>G (p.Val128Gly) rs781452659
NM_006494.4(ERF):c.398C>T (p.Pro133Leu) rs2036411561
NM_006494.4(ERF):c.408G>A (p.Pro136=)
NM_006494.4(ERF):c.40T>G (p.Trp14Gly)
NM_006494.4(ERF):c.41G>A (p.Trp14Ter) rs2036427390
NM_006494.4(ERF):c.427del (p.Arg143fs) rs2036410199
NM_006494.4(ERF):c.477C>A (p.Pro159=)
NM_006494.4(ERF):c.517_521dup (p.Ala175fs) rs2146950390
NM_006494.4(ERF):c.532G>C (p.Ala178Pro) rs767011693
NM_006494.4(ERF):c.547C>T (p.Arg183Ter) rs587777006
NM_006494.4(ERF):c.565T>G (p.Cys189Gly)
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer) rs1555750816
NM_006494.4(ERF):c.597G>A (p.Pro199=) rs778540681
NM_006494.4(ERF):c.615C>G (p.Arg205=) rs11557114
NM_006494.4(ERF):c.619C>T (p.Arg207Ter) rs1555750795
NM_006494.4(ERF):c.71C>G (p.Ser24Ter) rs2146952114
NM_006494.4(ERF):c.733del (p.Leu245fs) rs1555750741
NM_006494.4(ERF):c.748G>C (p.Val250Leu) rs2036399893
NM_006494.4(ERF):c.762C>T (p.Ala254=)
NM_006494.4(ERF):c.810G>A (p.Met270Ile)
NM_006494.4(ERF):c.813G>A (p.Thr271=) rs367694248
NM_006494.4(ERF):c.823C>T (p.Leu275=)
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006494.4(ERF):c.911_913del (p.Ser304del) rs2146949300
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter) rs1216061173
NM_006494.4(ERF):c.997_1034del (p.Leu332_His333insTer)

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